Articles de revues : « Dolichocephaly »

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Beckett, Joel S., Miles Jackson Pfaff, Michael Diluna et Derek M. Steinbacher. « Dolichocephaly Without Sagittal Craniosynostosis ». Journal of Craniofacial Surgery 24, n^o 5 (septembre 2013) : 1713–15. http://dx.doi.org/10.1097/scs.0b013e3182a12ece.

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Ben-Ami, M., E. Katzuni et A. Koren. « Imerslund Syndrome with Dolichocephaly ». Pediatric Hematology and Oncology 7, n^o 2 (janvier 1990) : 177–81. http://dx.doi.org/10.3109/08880019009033388.

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McManus, Beth, et Philip Capistran. « A Case Presentation of Early Intervention with Dolichocephaly in the NICU : Collaboration Between the Primary Nursing Team and the Developmental Care Specialist ». Neonatal Network 27, n^o 5 (septembre 2008) : 307–15. http://dx.doi.org/10.1891/0730-0832.27.5.307.

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Dolichocephaly, narrow width and long anterior-posterior cranial distance, is more commonly seen in preterm than in term infants. It seems to persist after NICU discharge and may be a marker for adverse neurodevelopment. This article reports a case of cranial molding in one extremely low birth weight infant. He was placed on a viscoelastic mattress and a twice weekly developmental care program. Cranial molding was measured using the cranial index (CI), a ratio of width to length. Initially, the patient presented with dolichocephaly (CI = 72 percent). By week 2, CI measurements approached normal limits (CI = 75 percent). When placed on continuous positive airway pressure, the infant presented with substantial dolichocephaly (CI = 66.7 percent). Following position changes to midline, CI measurements continued to improve and remained within normal limits until discharge. This dual-element program was feasible, acceptable to parents and staff, and may be effective for identifying and managing dolichocephaly.

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Modi, Rishi N., Caitlyn C. Belza, George N. Kamel, Ryan M. McKee, Mary K. Carbullido et Amanda A. Gosman. « Delayed Presentation of Sagittal Suture Craniosynostosis ». Annals of Plastic Surgery 88, n^o 4 (mai 2022) : S351—S356. http://dx.doi.org/10.1097/sap.0000000000003137.

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Background Sagittal craniosynostosis typically presents as dolichocephaly or less frequently as clinocephaly, a “saddle-shaped” phenotype. This project aimed to characterize clinically relevant differences between sagittal synostosis phenotypes and examine the etiology of the delay in presentation. Methods An institutional review board–approved retrospective review was performed from January 1999 to November 2018 at a single institution. Analyses examined correlations between subphenotype, time of presentation, minor suture fusion, developmental delay, and operative technique. Results One hundred sixty patients diagnosed with single-suture sagittal craniosynostosis were identified. A total of 30.6% had a saddle phenotype (n = 49) and 69.4% had dolichocephaly (n = 111). Patients with the saddle phenotype were more likely to present with a developmental delay and to have at least 1 minor suture fused than patients with dolichocephaly were. Patients with the saddle phenotype presented for surgery at an older age and were more likely to undergo open cranial vault repair, with increased blood loss, higher transfusion volume, and longer time. Conclusions This study highlights clinical differences in sagittal craniosynostosis phenotypes and shows that developmental delay is an initial presentation of the saddle phenotype. The saddle phenotype also correlated with fusion of the minor squamous and sphenoid sutures. The link between developmental delay and minor suture fusion was notable and should be explored with a larger sample size. Patients with saddle synostosis present for surgery at an older age than patients with dolichocephaly and therefore are more likely to receive open cranial vault repair, with a taxing intraoperative experience characterized by increased blood loss, increased transfusions, and longer operation time.

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Yu, Dongyi, Shuo Li, Qi Liu et Kai Zhang. « Novel chromosomal microduplications associated with dolichocephaly craniosynostosis ». Medicine 96, n^o 49 (décembre 2017) : e8729. http://dx.doi.org/10.1097/md.0000000000008729.

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Gaibov, S. S., E. V. Zakharchyk et D. P. Vorobjov. « Morphometric analysis of the structures of the skull according to computed tomography data in children in norm and in dolichocephaly ». Сибирский научный медицинский журнал 43, n^o 4 (29 août 2023) : 65–69. http://dx.doi.org/10.18699/ssmj20230406.

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There is an increased interest in the problem of helping children with skull deformities that occur due to premature closure of cranial sutures and the development of craniosynostosis. Assessment of cranial dysmorphism in skull deformities is often subjective and remains a challenge. Morphometric studies are a significant section that is poorly covered in modern scientific, practical and reference medical literature.Material and methods. The analysis of the data of craniometric measurements, of cephalic index (CI) according to the results of computed tomography in 24 children with dolichocephaly (14 boys, 10 girls) at the age of 7.4 ± 3.2 months (2–12 months) and in the control group of 25 children (15 boys, 9 girls) at the age of 7.2 ± 4.8 months (2–12 months).Results. The data showed significant differences in children in norm and in dolichocephaly. CI shows the ratio of the linear dimensions of the skull in normal and dolichocephaly. The most significant differences were revealed when assessing the distances G-Op, CG-TS, CG-MAI, MAI-MAI, Zg-Zg, Ec-Ec, Br-Ba. CG-TS, CG-MAI, MAI-MAI, Br-Ba reflect deformation of the skull base, and Zg-Zg, Ec-Ec – deformation of the facial skeleton in dolichocephaly.Conclusions. A comprehensive morphometric analysis of the skull structures based on precise anatomical landmarks demonstrated objective differences in the morphology of the skull in children with normal conditions and with dolichocephaly. The data indicate the importance of a comprehensive assessment of changes in the skull for all forms of the skull. Carrying out such an analysis is important for understanding all morphological changes in the skull in health and disease.

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Celentano, Claudio, Raffaella Zannolli, Sabrina Buoni, Sergio Domizio, Giuseppe Sabatino, Cesare Colosimo, Anita Saponari et al. « Classical lissencephaly associated with dolichocephaly, hair and nail defect ». Brain and Development 28, n^o 6 (juillet 2006) : 392–94. http://dx.doi.org/10.1016/j.braindev.2005.10.011.

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Levine, D., S. Kilpatrick, N. Damato et P. W. Callen. « Dolichocephaly and oligohydramnios in preterm premature rupture of the membranes. » Journal of Ultrasound in Medicine 15, n^o 5 (mai 1996) : 375–79. http://dx.doi.org/10.7863/jum.1996.15.5.375.

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Kochuvareed Mampilly, Tomy, George Tomy Mampilly, Neeradha Chandramohan, Murugan Velayutham, Jayesh Sheth, Frenny Sheth et Vijayalakshmy Janaki. « Prenatal dolichocephaly : Sign of trouble ? –A variant of Miller–Dieker syndrome ». Fetal and Pediatric Pathology 32, n^o 4 (10 janvier 2013) : 308–11. http://dx.doi.org/10.3109/15513815.2012.754529.

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Peat, Jennifer, William Malcolm, P. Smith, Kimberley Fisher, Ricki Goldstein et Dana McCarty. « Dolichocephaly in Preterm Infants : Prevalence, Risk Factors, and Early Motor Outcomes ». American Journal of Perinatology 34, n^o 04 (2 septembre 2016) : 372–78. http://dx.doi.org/10.1055/s-0036-1592128.

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Nakanomori, Aya, Hiroshi Miyabayashi, Yukari Tanaka, Taishin Maedomari, Chihiro Mukai, Katsuya Saito, Aya Okahashi, Nobuhiko Nagano et Ichiro Morioka. « Changes in Cranial Shape and Developmental Quotient at 6 Months of Age in Preterm Infants ». Children 10, n^o 5 (11 mai 2023) : 855. http://dx.doi.org/10.3390/children10050855.

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The purpose of this study was to investigate changes in cranial shape among preterm neonates aged 1–6 months and the relationship between developmental quotient (DQ) and cranial shape at 6 months of age. Preterm infants who were hospitalized in our hospital were prospectively followed for 6 months. The cephalic index (CI) and cranial vault asymmetry index (CVAI) were evaluated at 1 (T1), 3 (T2), and 6 months (T3) of age and compared with those of the full-term infants. The relationship between CI or CVAI and DQ at T3 was analyzed using the Enjoji Scale of Infant Analytical Development. A total of 26 participants born at 34.7 ± 1.9 weeks of gestation were included. The CI increased with age (T1: 77.2%, T2: 82.9%, T3: 85.4%, p < 0.01). The prevalence of dolichocephaly at T3 did not significantly differ from that in full-term infants (15.4% vs. 4.5%, p = 0.08). CVAI did not significantly differ between preterm and full-term infants. The DQ showed no significant correlation with either the CI or CVAI (correlation coefficients: 0.23 for CI, −0.01; CVAI). Dolichocephaly improved over time in preterm infants and no relationship between cranial shape and development was observed in preterm infants at 6 months of age.

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McCarty, Dana B., Shannon OʼDonnell, Ricki F. Goldstein, P. Brian Smith, Kimberley Fisher et William F. Malcolm. « Use of a Midliner Positioning System for Prevention of Dolichocephaly in Preterm Infants ». Pediatric Physical Therapy 30, n^o 2 (avril 2018) : 126–34. http://dx.doi.org/10.1097/pep.0000000000000487.

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Mewes, Andrea U. J., Lilla Zöllei, Petra S. Hüppi, Heidelise Als, Gloria B. McAnulty, Terrie E. Inder, William M. Wells et Simon K. Warfield. « Displacement of brain regions in preterm infants with non-synostotic dolichocephaly investigated by MRI ». NeuroImage 36, n^o 4 (juillet 2007) : 1074–85. http://dx.doi.org/10.1016/j.neuroimage.2007.04.011.

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Ope, Omotayo, Elizabeth J. Bhoj, Beverly Nelson, Dong Li, Hakon Hakonarson et Andrew K. Sobering. « A homozygous truncating NALCN variant in two Afro‐Caribbean siblings with hypotonia and dolichocephaly ». American Journal of Medical Genetics Part A 182, n^o 8 (2 juillet 2020) : 1877–80. http://dx.doi.org/10.1002/ajmg.a.61744.

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Blanchard, Yvette, et Katherine M. Lammers. « Commentary on “Use of a Midliner Positioning System for Prevention of Dolichocephaly in Preterm Infants” ». Pediatric Physical Therapy 30, n^o 2 (avril 2018) : 134. http://dx.doi.org/10.1097/pep.0000000000000496.

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Voinytska, O. M., O. Yu Vovk et I. V. Chekanova. « Individual anatomical variability of the angular parameters of the parietal bones of the cranial vault in mature person ». Reports of Vinnytsia National Medical University 27, n^o 4 (7 décembre 2023) : 558–62. http://dx.doi.org/10.31393/reports-vnmedical-2023-27(4)-04.

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Annotation. Given the emergence of new modern methods and systems of instrumental research, modern morphology, in particular craniometry, prefers and is aimed at the study of anatomical structures during life. The purpose of our study is to establish the individual anatomical variability of the angular parameters of the parietal bones of the cranial vault of an adult. The morphometric study was conducted on 82 bone specimens and 48 tomograms. To establish the craniotype and divide the material into groups based on it, the main cranial index was calculated, which is determined by the percentage ratio of the width of the skull to its length. Along with this, the angular parameters on the left and right half of the skull vault, at the transition points of the interosseous seams surrounding the parietal bones, were studied. Variational and statistical analysis was performed with the help of Statistica 13.5.0.17 (trial version) and Microsoft Excel corporate package MS 365. It was established that in all cases the frontal angle exceeds the right angle, which is especially characteristic of mature people with a dolichocephalic head shape. In our opinion, this happens under the influence of an increase in the length and height of the cerebral part of the skull and the vault as a whole in dolihocephals. The anteroinferior (sphenoid) angle has characteristic values less than a right angle, namely, in people with a meso- and dolichocephalic head shape, with the exception of people with a brachycephalic shape, in which the transverse dimensions of the skull and its vault are significantly increased. The posterosuperior (occipital) angle has variable values that exceed an angle of 90°, especially in round-headed people (brachycephals). With brachycephaly, the range of the posteroinferior (mastoid) angle is increased to 150°-151°in men and 138°-146°in women with a gradual decrease in meso- and dolichocephaly. The conducted research showed that the corners of the parietal bone have a certain dependence on the shape and size of the cerebral part of the skull. The obtained results complement the existing data on the angular parameters of the parietal bones of the skull vault and can serve as a reference point and basis for further research with an in-depth study of the intravital morphology of these structures using modern instrumental research methods.

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Nandy, Arnab, Sankar K. Das, Sumit Roy et Shreyasi Das. « Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome ». International Journal of Contemporary Pediatrics 7, n^o 1 (24 décembre 2019) : 212. http://dx.doi.org/10.18203/2349-3291.ijcp20195756.

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Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen.

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Chen, Chih-Ping, Chin-Yuan Hsu, Jon-Kway Huang, Chen-Chi Lee, Wen-Lin Chen et Wayseen Wang. « Prenatal diagnosis of partial trisomy 16q and distal 22q13 deletion associated with dolichocephaly and frontal bossing on second-trimester ultrasound ». Prenatal Diagnosis 25, n^o 10 (2005) : 964–66. http://dx.doi.org/10.1002/pd.1277.

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Lichade, Vinaya, Poonam Wade, Prachi Gandhi, Shruti Saxena et Sushma Malik. « Femoral hypoplasia-unusual facies syndrome : a rare clinical entity ». International Journal of Contemporary Pediatrics 6, n^o 1 (24 décembre 2018) : 227. http://dx.doi.org/10.18203/2349-3291.ijcp20185217.

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Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

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Huang, Chiung-Shing, Hsin-Chung Cheng, Wen-Yuan Lin, Jein-Wein Liou et Yu-Ray Chen. « Skull Morphology Affected by Different Sleep Positions in Infancy ». Cleft Palate-Craniofacial Journal 32, n^o 5 (septembre 1995) : 413–19. http://dx.doi.org/10.1597/1545-1569_1995_032_0413_smabds_2.3.co_2.

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In Infancy, prior to cranial suture and fontanel calcification, the craniofacial skeleton can be easily deformed by an externally exerted force. In this study, the relationship between the sleep position and skull morphology was investigated. A group of 81 cleft lip and/or palate infants without other systemic anomalies was first seen in the craniofacial center at approximately 1 month of age. The sleep position of each infant was recorded as supine, prone, or mixed type. The body and skull growth were longitudinally measured at 1, 3, and 6 months of age. Infants sleeping in the supine sleep position tended to have a wider head width, shorter head length, and a larger cephalic Index by 6 months of age. The opposite phenomena were observed in the prone sleep group. The mixed sleep group tended to have head width, head length, and cephalic index between those of the supine sleep group and the prone sleep group. During the first 3 months of life, the sleep position could mold the skull primarily in the dimension of head width. In conclusion, the supine sleep position may promote brachycephaly and the prone sleep position dolichocephaly.

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Fitas, Ana Laura, Mafalda Paiva, Ana Isabel Cordeiro, Luís Nunes et Gonçalo Cordeiro-Ferreira. « Mosaic Trisomy 18 in a Five-Month-Old Infant ». Case Reports in Pediatrics 2013 (2013) : 1–3. http://dx.doi.org/10.1155/2013/929861.

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Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy. Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominentocciput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

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Khattak, Shahzaib, Meryam Jan, Sara Warsi et Sohail Khattak. « Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies ». Case Reports in Genetics 2020 (11 juillet 2020) : 1–6. http://dx.doi.org/10.1155/2020/7093409.

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Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.

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Gasparini, Yanca, Marília M. Montenegro, Gil M. Novo-Filho, José R. M. Ceroni, Rachel S. Honjo, Évelin A. Zanardo, Alexandre T. Dias et al. « Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines ». Cytogenetic and Genome Research 157, n^o 3 (2019) : 153–57. http://dx.doi.org/10.1159/000498836.

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Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.

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Sarasua, Sara M., Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee et Luigi Boccuto. « Head Size in Phelan–McDermid Syndrome : A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13 ». Genes 14, n^o 3 (21 février 2023) : 540. http://dx.doi.org/10.3390/genes14030540.

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Phelan–McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. Notable features include developmental issues, absent or delayed speech, neonatal hypotonia, seizures, autism or autistic traits, gastrointestinal problems, renal abnormalities, dolichocephaly, and both macro- and microcephaly. Assessment of the genetic factors that are responsible for abnormal head size in PMS has been hampered by small sample sizes as well as a lack of attention to these features. Therefore, this study was conducted to investigate the relationship between head size and genes on chromosome 22q13. A review of the literature was conducted to identify published cases of 22q13 deletions with information on head size to conduct a pooled association analysis. Across 56 studies, we identified 198 cases of PMS with defined deletion sizes and head size information. A total of 33 subjects (17%) had macrocephaly, 26 (13%) had microcephaly, and 139 (70%) were normocephalic. Individuals with macrocephaly had significantly larger genomic deletions than those with microcephaly or normocephaly (p < 0.0001). A genomic region on 22q13.31 was found to be significantly associated with macrocephaly with CELSR1, GRAMD4, and TBCD122 suggested as candidate genes. Investigation of these genes will aid the understanding of head and brain development.

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Chiner, Eusebi, Jose N. Sancho-Chust, Esther Pastor, Violeta Esteban, Ignacio Boira, Carmen Castelló, Carly Celis, Sandra Vañes et Anastasiya Torba. « Features of Obstructive Sleep Apnea in Children with and without Comorbidities ». Journal of Clinical Medicine 12, n^o 6 (21 mars 2023) : 2418. http://dx.doi.org/10.3390/jcm12062418.

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Background: To compare the clinical and polysomnographic features of obstructive sleep apnea (OSA) in children with adenotonsillar hypertrophy (Group A) and comorbidities (Group B). Methods: A five-year prospective study using nocturnal polysomnography before and after treatment. Results: We included 168 patients: 121 in Group A and 47 in Group B, with differences in age (6.5 ± 3 vs. 8.6 ± 4 years; p < 0.001), body mass index (BMI) (18 ± 4 vs. 20 ± 7 kg/m2; p < 0.05), neck circumference (28 ± 4 vs. 30 ± 5 cm; p < 0.05), and obesity (17% vs. 30%; p < 0.05). Group B patients were more likely to have facial anomalies (p < 0.001), macroglossia (p < 0.01), dolichocephaly (p < 0.01), micrognathia (p < 0.001), and prognathism (p < 0.05). Adenotonsillectomy was performed in 103 Group A patients (85%) and 28 Group B patients (60%) (p < 0.001). In B, 13 children (28%) received treatment with continuous positive airway pressure (CPAP) and 2 (4%) with bilevel positive airway pressure (BiPAP), compared with 7 in Group A (6%) (p < 0.001). Maxillofacial surgery was more common in Group B (p < 0.01). Clinical and polysomnography parameters improved significantly in both groups after therapeutic intervention, though Group A showed better results. Conclusions: Obesity and facial anomalies are more frequent in childhood OSA patients with comorbidities, who often require combination therapy, such as ventilation and surgery.

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Harris, H. A. « The Skull, the Face, and the Teeth of Primates, with special reference to Dolichocephaly and the Centres of Growth in the Face.-Part I ». Proceedings of the Zoological Society of London 97, n^o 3 (21 août 2009) : 491–502. http://dx.doi.org/10.1111/j.1469-7998.1927.tb07423.x.

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Nam, Heesung, Nami Han, Mi Ja Eom, Minjung Kook et Jeeyoung Kim. « Cephalic Index of Korean Children With Normal Brain Development During the First 7 Years of Life Based on Computed Tomography ». Annals of Rehabilitation Medicine 45, n^o 2 (30 avril 2021) : 141–49. http://dx.doi.org/10.5535/arm.20235.

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Objective To identify the normal range, distribution, and age-dependent differences in the cephalic index (CI) of Korean children with normal brain development and develop a classification of the current CI for Korean children up to 7 years of age.Methods We retrospectively analyzed 1,389 children who visited our hospital in the emergency room between October 2015 and September 2020 because of suspected head injuries. Finally, 1,248 children (741 male and 507 female) were enrolled after excluding abnormal medical or familial history and divided into 10 groups by age. The CI was measured using brain computed tomography and calculated according to the following equation: cephalic width/cephalic length×100.Results The averages of CI by age groups were as follows: 89.29 (0–3 months group, n=44); 91.41 (4–6 months group, n=63); 89.68 (7–9 months group, n=62); 87.52 (10–12 months group, n=41); 87.64 (≥2 years group, n=243); 86.63 (≥3 years group, n=178); 85.62 (≥4 years group, n=232); 85.77 (≥5 years group, n=201); 85.15 (≥6 years group, n=75); and 85.34 (≥7 years group, n=109). The CI of Korean children in normal brain development was confirmed to be large, showing a notable difference compared to that of Caucasians.Conclusion The current CI of Korean children will provide a valuable reference for diagnosing and treating cranial deformities, especially dolichocephaly and brachycephaly as well as to monitor the morphology of the cranium in clinics.

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Arenas, María Alejandra, Sebastián Jaimovich, Natalia Perez Garrido, Mariana del Pino, Gisela Viterbo, Roxana Marino et Virginia Fano. « Hereditary hypophosphatemic rickets and craniosynostosis ». Journal of Pediatric Endocrinology and Metabolism 34, n^o 9 (21 juin 2021) : 1105–13. http://dx.doi.org/10.1515/jpem-2021-0042.

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Abstract Background Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis. Methods and patients An observational and retrospective cohort study was conducted. Clinical notes and cranial images were reviewed. Out of 96 children, only the 50 patients who had skull images were included. Results Out of 50 patients, 26 (15 males) had craniosynostosis (52%). No differences were observed in birth size, age, height, body proportions, alkaline phosphatase, serum phosphate, or percent tubular reabsorption of phosphate at first appointment among children with or without craniosynostosis. Among patients with craniosynostosis, dolichocephaly was prevalent. The sagittal suture was affected in all patients with craniosynostosis, with 19 of 26 children (73%) affected with isolated scaphocephaly. Pan-sutural craniosynostosis was present in 7 children (27%). None of the children had microcephaly, 7 of them presented macrocephaly and, in the remaining subjects, head circumference was normal. Five patients had undergone at least 1 cranial remodeling surgery. One patient with craniosynostosis was diagnosed with a Chiari I malformation. Molecular characterization of PHEX gene was performed in 14 cases. Conclusions Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Many patients with normal head size and growth may go undiagnosed, thus it is important to consider this association for early diagnosis and possible surgical treatment. A multidisciplinary approach is necessary for a correct long-term follow-up.

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Anisimova, Kristina A., Dmitriy I. Vasilevsky, Leysan I. Davletbaeva, Dmitriy Yu Semenov, Alexander S. Lapshin, Stanislav G. Balandov et Irina I. Fadeeva. « Laparoscopic sleeve gastrectomy in the Prader-Willi-Labhart syndrome (case report) ». Pediatrician (St. Petersburg) 9, n^o 3 (15 décembre 2018) : 106–10. http://dx.doi.org/10.17816/ped93106-110.

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The article presents clinical case surgical treatment of obesity in the patient with Prader-Willy-Labhart syndrome (PWS). The patient had characteristic phenotypic features of the disease: low growth, narrow temporal part of the skull, dolichocephaly, acromicria. There was a delay in psychomotor development, hypogonadism. Excess body weight was noted from three years old with a gradual progression of obesity. Now patient is 23 and her weight is 159 kg with an increase of 150 cm (BMI 70.7 kg/m2). The co-morbidities were represented by arterial hypertension, type 2 diabetes and bronchial asthma. The indication for surgical treatment was the morbid (III degree) obesity by the Prader-Willy-Labhart syndrome, complicated by the development of diseases associated with overweight and non-medicated therapy. After a long (three-week) preoperative preparation aimed at correcting the manifestations of bronchial asthma and obesity-related diseases, laparoscopic sleeve gastrectomy was performed. The choice of the procedure of operation was determined by its pathogenetic reasonability (resection the most part of the stomach, which is producing ghrelin), and severe comorbid background (which is limiting the time of surgery) and severe hyperphagia (which is requiring a procedure with a predominantly restrictive mechanism of action). After operation period flowed without complications. The patient noted decrease of the appetite and the relief keeping nutrition's regime. A year after laparoscopic sleeve gastrectomy the patient achieved reduction of 59 kg body mass and remission of co-morbidities. A positive effect in metabolic profile allows us to consider laparoscopic sleeve gastrectomy as an effective method for treating patients with Prader-Willy-Labhart syndrome.

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Kos, Radmila, Biljana Medjo, Slobodanka Grkovic, Dimitrije Nikolic, Silvija Sajic et Jelena Ilic. « Camptomelic dysplasia : A case report ». Srpski arhiv za celokupno lekarstvo 135, n^o 5-6 (2007) : 335–38. http://dx.doi.org/10.2298/sarh0706335k.

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Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17) with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

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Martinez, Carlos Augusto Real, Lilian Vital Pinheiro, Debora Helena Rossi, Michel Gardere Camargo, Maria de Lourdes Setsuko Ayrizono, Raquel Franco Leal et Cláudio Saddy Rodrigues Coy. « Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome ». Case Reports in Surgery 2016 (2016) : 1–5. http://dx.doi.org/10.1155/2016/3176842.

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Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation inBLMgene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Clinical manifestations also include short stature, dolichocephaly, prominent ears, micrognathia, malar hypoplasia and a high-pitched voice, immunodeficiency, type II diabetes, and hypogonadism associated with male infertility and female subfertility. The aim of this report is to describe case of patient with BS who developed adenocarcinoma of the cecum, successfully treated by right colectomy.Case Report. A 40-year-old man underwent colonoscopy to investigate the cause of his diarrhea, weight loss, and anemia. The patient knew that he was a carrier of BS diagnosed at young age. The colonoscopy showed an expansive and vegetating mass with 5.5 cm in diameter, located within the ascending colon. Histopathological analysis of tissue fragments collected during colonoscopy confirmed the presence of tubular adenocarcinoma, and he was referred for an oncological right colectomy. The procedure was performed without complications, and the patient was discharged on the fifth postoperative day. Histopathological examination of the surgical specimen confirmed the presence of a grade II tubular adenocarcinoma (stage IIA). The patient is currently well five years after surgery, without clinical or endoscopic signs of relapse in a multidisciplinary approach for the monitoring of comorbidities related to BS.Conclusion. Despite the development of colorectal cancer to be, a possibility rarely described the present case shows the need for early screening for colorectal cancer in all patients affected by BS.

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Sinclair, Bradley J., et John F. MacDonald. « Revision ofDolichocephalaof America, north of Mexico (Diptera : Empididae : Clinocerinae) ». Canadian Entomologist 144, n^o 1 (15 février 2012) : 62–80. http://dx.doi.org/10.4039/tce.2012.8.

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AbstractDolichocephalaMacquart is revised for America, north of Mexico. New descriptions and diagnoses of the genus and a previously known species are presented. Six new species are described:Dolichocephala arnaudisp. nov.,Dolichocephala borkentisp. nov.,Dolichocephala chillcottisp. nov.,Dolichocephala teskeyisp. nov.,Dolichocephala vockerothisp. nov., andDolichocephala woodisp. nov.Previous Nearctic records ofDolichocephala irrorataFallén are based on misidentifications.Dolichocephala bellstedtiJoost is newly recorded from Sweden. A key to adults, photographs of wings, illustrations of male terminalia, and known distributions are included.

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L., Ravindernath M., Mahender Reddy et Nihar Reddy. « Accuracy of transverse cerebellar diameter measurement by ultrasonography in the evaluation of foetal age ». International Journal of Advances in Medicine 4, n^o 3 (23 mai 2017) : 836. http://dx.doi.org/10.18203/2349-3933.ijam20172281.

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Background: Assessment of accurate gestational age of fetus is very imperative for proper obstetric management of normal as well as IUGR pregnancies. The objective of this study was to evaluate the accuracy of transverse cerebellar diameter as against the conventional parameters of Biparietal diameter, head circumference, abdominal circumference and femur length in normal pregnant mothers between 15 to 40 weeks and in antenatal diagnosis of intrauterine growth retardation.Methods: Study done on 100 women attending antenatal department, 80 were normal pregnancy cases and 20 were clinically suspected IUGR cases. In each patient BPD, HC, AC, FL and TCD was measured. Correlation of TCD was done with other measured parameters as well as with estimated gestational age of fetus.Results: There was no statistically significant difference between the age and parity distributions of two groups It was seen that 18 cases were below the fifth percentile for AC and HC, 19 cases were below the fifth percentile for BPD and 16 cases were below the fifth percentile for FL. In 16 out of 20 cases the TCD values were within the normal range. Only in 4 cases the TCD values were below the 5th percentile. This difference in number of cases below the 5th percentile for BPD, HC, AC, FL and TCD was statistically significant (p-value=0.001). In 20 IUGR cases the gestational age predicted by transverse cerebellar diameter measurements closely correlated with gestational age predicted by last menstrual period.Conclusions: It was found that there is good correlation between TCD and other parameters. Also, TCD shows good correlation with gestational age. It is better than BPD in circumstances like excessive moulding and dolichocephaly. Also, TCD measurement is not fraught with problems as encountered in FL measurement.

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Stepien, Natalia, Christine Haberler, Maria-Theresa Schmook, Johannes Gojo, Amedeo A. Azizi, Thomas Czech, Irene Slavc et Andreas Peyrl. « RARE-20. A RARE CASE OF A PRIMARY CENTRAL NERVOUS SYSTEM NEUROENDOCRINE CARCINOMA AND SUCCESSFULL THERAPY IN A FIVE-YEAR-OLD CHILD ». Neuro-Oncology 23, Supplement_1 (1 juin 2021) : i45. http://dx.doi.org/10.1093/neuonc/noab090.181.

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Abstract Neuroendocrine tumors (NETs) are rare neoplasms predominantly arising in the GI-tract or the lungs of adults. To date, only ten cases of primary CNS NETs have been reported with just three of them describing a neuroendocrine carcinoma (NEC) in patients aged 34–77 years and none occurring in a child. We report on a previously healthy 5-year-old boy, who presented with headaches, nausea and vomiting and was diagnosed with a left cerebellar solid mass with a cystic component, radiologically suggestive of a pilocytic astrocytoma. After gross-total resection, histological analysis revealed an epithelial tumor growing in a nest-like pattern with a very high mitotic frequency, staining positive for CK8, CK18 and CK19. Chromogranin A and synaptophysin expression indicated a neuroendocrine differentiation. Molecular analysis of the tumor tissue revealed a KRAS- splice-site mutation (c451-3C>T). After extensive search for an extracranial primary, including Ga-68 DOTANOC-PET-CT, the diagnosis of a primary CNS NEC was made, and proton irradiation was performed. However, the patient developed an in-field recurrence just five weeks after the end of radiotherapy. The tumor was re-resected en-bloc, showing vital tumor tissue, demonstrating its aggressiveness. Chemotherapy consisting of etoposide, cisplatin and ifosfamide was initiated. After two cycles chemotherapy was continued with etoposide and carboplatin for another four cycles. The patient remains disease free one year after the end of relapse-treatment, supporting the beneficial effect of platinum- and etoposide-based chemotherapy for this tumor entity. Physical exam revealed a sagittal synostosis with a mild dolichocephaly. Interestingly, the KRAS-mutation was discovered to be a maternal germline mutation, previously described as likely benign. However, alterations of the RAS/MAPK pathway have been described in NECs and in craniosynostosis cases. It remains to be elucidated whether the KRAS-mutation is merely a variant of uncertain significance or might have been implicated in the development of this exceptional tumor.

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Talantova, Olga E., Alla S. Koltsova, Andrei V. Tikhonov, Anna A. Pendina, Olga V. Malysheva, Olga A. Tarasenko, Elena S. Vashukova et al. « Prenatal Detection of Trisomy 2 : Considerations for Genetic Counseling and Testing ». Genes 14, n^o 4 (14 avril 2023) : 913. http://dx.doi.org/10.3390/genes14040913.

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We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient’s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.

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Voinytska, O. M., O. Yu Vovk et I. V. Chekanova. « Peculiarities of the parietal bones of the vault of the human skull structure and shape, taking into account sex and craniotype ». Reports of Morphology 29, n^o 4 (21 décembre 2023) : 27–34. http://dx.doi.org/10.31393/morphology-journal-2023-29(4)-04.

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The development of neurosurgery and the increase in requirements for the performance of surgical approaches performed through the bones of the skull vault lead to the formation of new requests for detailing and clarification of the craniometric characteristics of the parietal bones. The purpose of our study is to establish the features of the shape and other spatial indicators of the parietal bones of the skull of a mature person, taking into account sex and certain types of craniotype. The study was conducted on 130 studied preparations of bone structures of the head of adults from the collected collection of the Department of Normal Anatomy of the Kharkiv National Medical University, in the amount of 82 bone preparations, including isolated parietal bones, as well as 48 tomograms obtained during the examination of patients. The basis for establishing a craniotype is the principle of calculating the cranial index. For statistical analysis, we used the programs Statistica 13.5.0.17 (trial version) and Microsoft Excel of the corporate package MS 365. To establish the peculiarities of the structure and shape of the parietal bones, the following craniometric indicators were determined: the length and width of the parietal tubers, the parietal chord and the arch, calculated the curvature index of the parietal bone. The obtained data were analyzed for mature people of different genders and three established craniotypes. It has been established that brachycephals are characterized by an expanded and expanded form of the parietal bones, which is associated with the predominance of the transverse dimensions of the entire cerebral skull. For mesocephals, the most typical intermediate- average form depending on the values of the cranial index. Dolichocephals have an elongated and narrowed form of the parietal bones, which is combined with general changes in the cerebral skull. Additional linear parameters of the parietal bones are directly dependent on the established craniotype. The dolichocephalic type is characterized by maximum length values of parietal tubers: ¯x =18.43 mm (right) and ¯x =18.24 mm (left) with minimum width parameters: up to ¯x =15.71 mm and ¯x =15.02 mm. Representatives of the brachycranic type are characterized by the minimum indicators of the length of the parietal tubers: from ¯x =12.73 mm to ¯x =12.81 mm and the maximum indicators for the width - ¯x =23.52 mm (right) and ¯x =23.04 mm (left). The parietal chord, like the parietal arch, had a similar trend in the distribution of indicators, namely: an increase from dolichocrania to brachycrania. In men with a dolichocephalic type of skull structure, the average values of these parameters were at the level of ¯x =108.2 mm (right) and 107.6 mm (left) for the parietal chord, and ¯x =114.2 mm and ¯x =113.2 mm for the parietal arcs In men with brachycranic type, the parietal chord reached - ¯x =116.6 mm (right) and ¯x =115.8 mm (left), and the parietal arch reached - ¯x =127.8 mm (right) and ¯x =126.9 mm ( left). In women, a similar principle of size distribution has been established, taking into account a small, 2-3 mm, general decrease in indicators compared to men. The curvature index of the parietal bones was determined: the maximum average values ¯x =83.00-83.58 were obtained in dolichocephals, the minimum values were ¯x =80.56-81.64 in brachycephals. This indicates an increase in the curvature of bones in brachycephals, given that the absolute value of the index is inversely proportional to the degree of curvature. Thus, the obtained data indicate a stable relationship between the craniotype of the skull and additional parameters of the parietal bones.

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SINCLAIR, BRADLEY J., et ADRIAN R. PLANT. « Dolichocephala Macquart of Thailand (Diptera : Empididae : Clinocerinae) ». Zootaxa 4358, n^o 3 (30 novembre 2017) : 551. http://dx.doi.org/10.11646/zootaxa.4358.3.9.

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Seven new species of Dolichocephala Macquart from Thailand are described (D. bicolor sp. nov., D. curvata sp. nov., D. immaculata sp. nov., D. incus sp. nov., D. longicerca sp. nov., D. srisukai sp. nov., D. thailandensis sp. nov.). A key to species is provided, distributions mapped and phenology and biogeography discussed.

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Shakirova, A. A., S. S. Kantutis, O. V. Pravoslavnaya, P. V. Shumilov, T. G. Demyanova, H. A. Sarkisyan, O. L. Chugunova, S. V. Cherkasova et A. I. Chubarova. « Diagnostic features of Prader–Willi syndrome in the neonatal period ». Voprosy detskoj dietologii 21, n^o 4 (2023) : 74–83. http://dx.doi.org/10.20953/1727-5784-2023-4-74-83.

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Objective. To demonstrate the clinical features of Prader–Willi syndrome (PWS) in the neonatal period, to assess the impact of perinatal factors on the development and severity of PWS, and to compare the data obtained with literary sources. Patients and methods. This cross-sectional open-label retrospective study was conducted between 2022 and 2023. It included 5 neonates with severe hypotonia and subsequently confirmed PWS. Anamnestic, anthropometric, age- and sex-related characteristics of children with PWS and anamnestic data of their mothers, as well as clinical manifestations of PWS were investigated. Results. Most of the children with PWS were born prematurely, with a mean birth weight of 2512.0 ± 549.5 g, height of 48.2 ± 5.1 cm, and head circumference of 32.9 ± 2.5 cm, which is below the standard values for preterm infants. The mean Apgar score was 5.8 ± 2.8/7.2 ± 1.9. Three out of five children were not appropriate for gestational age, having low values according to the INTERGROWTH-21st standards. Children were born to mothers aged 35 ± 5 years, and 3 (60%) out of 5 women had an aggravated somatic and/or obstetric and gynecological history. Evaluation of clinical manifestations of PWS revealed post-hypoxic injury of the central nervous system (CNS) (100%), respiratory disorders (100%), infectious toxicosis and intrauterine pneumonia (80%). Objective examination revealed hypotonia, hyporeflexia, reduced motor function in all patients, and 80% of children had poor sucking reflex. The most common phenotypic features were high forehead, almondshaped eyes, dolichocephaly, narrow temporal bones, thin upper lip, down-turned corners of the mouth; orbital hypertelorism, acromicria, and hypogonadism were observed less frequently. Conclusion. Early diagnosis of PWS is possible with a comprehensive differential diagnosis in children with the “floppy baby syndrome”. Special attention should be paid to children with intrauterine growth restriction, typical stigmas of dysembryogenesis, respiratory disorders, and hypoxic CNS injury. Genetic counseling and karyotyping should be performed as early as possible in all newborns with suspected PWS to prevent the development of complications. Key words: Prader–Willi syndrome, floppy baby syndrome, stigmas of dysembryogenesis, hypotonia, hyporeflexia, poor sucking reflex, feeding disorders, developmental delay, hypogonadism

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Ivković, Marija, Marija Perović, Patrick Grootaert et Marc Pollet. « High endemicity in aquatic dance flies of Corsica, France (Diptera, Empididae, Clinocerinae and Hemerodromiinae), with the description of a new species of Chelipoda ». ZooKeys 1039 (25 mai 2021) : 177–97. http://dx.doi.org/10.3897/zookeys.1039.66493.

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All known records of aquatic dance flies (Empididae, Clinocerinae: 21 species; Hemerodromiinae: eight species) from the island of Corsica (France) are summarized, including previously unpublished data and data on the newly described species Chelipoda puschae Ivković, Perović & Grootaert, sp. nov. This species was collected during the “La Planète Revisitée Corsica 2019” survey and represents the first description of a new species in the genus Chelipoda from the European–Mediterranean region in more than 180 years. A key to European species of Chelipoda is provided. Including the new species, five species are recorded from Corsica for the first time: Dolichocephala malickyi Wagner, 1995, Dolichocephala oblongoguttata (Dale, 1878), Dolichocephala ocellata (Costa, 1854), Chelifera subangusta Collin, 1961, and Hemerodromia unilineata Zetterstedt, 1842. The new species is described and illustrated, and new records of aquatic dance flies from Corsica are given, with new data on 17 species in eight different genera. At present, 29 species of aquatic dance flies are known from Corsica, with 10 species endemic to the island.

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Horvat, B. « Dolichocephala sinicasp.n. (Diptera, Empididae : Clinocerinae) from Sichuan (China) ». Aquatic Insects 16, n^o 4 (octobre 1994) : 201–3. http://dx.doi.org/10.1080/01650429409361556.

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Ilian, Aurora, Andrei Motoc, Ligia Balulescu, Cristina Secosan, Dorin Grigoras et Laurentiu Pirtea. « A Case Report of Left Atrial Isomerism in a Syndromic Context ». Genes 11, n^o 10 (16 octobre 2020) : 1211. http://dx.doi.org/10.3390/genes11101211.

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The objective of our paper is to underline the importance of assessing microarray genetic analysis for the detection of chromosomal abnormalities in rare cases such as left atrial isomerism, mostly in the context of antenatally detected syndromes. We present the case of a 26-year-old primipara, at 26 weeks of gestation, with prior first trimester normal anomaly scan, who presented in our department accusing lower abdominal pain. An anomaly ultrasound examination of the fetus revealed cardiomegaly with increased size of the right atrium, non-visualization of the atrial septum or the foramen ovale, malalignment of the three-vessel view, location of the superior vena cava above the two-vessel view, slight pericardial effusion, and no interruption of the inferior vena cava nor presence of azygos vein being noted. Associated extracardiac abnormalities, such as small kidneys at the level of the iliac fossa, micrognathia, dolichocephaly with hypoplasia of the cerebellum, increased nuchal fold, and reduced fetal movements were also reported. A diagnostic amniocentesis was performed, and, while the conventional rapid prenatal diagnostic test of the multiplex quantitative fluorescent polymerase chain reaction (PCR) came as normal, the microarray analysis (ChAS, NCBI Built 37 hg 19, detection of microdeletions or microduplications larger than 100 kb) revealed two chromosomal abnormalities: a 22.84 Mb loss of genetic material in the 18q21.31–18q23 chromosomal region and a gain of 22.31 Mb of genetic material in the 20p13–20p11.21 chromosomal region. After the termination of pregnancy, a necropsy of the fetus was performed, confirming heterotaxy syndrome with a common atrium, no atrial septum, superior vena cava draining medianly, and pulmonary veins that drained into the lower segment of the left atrium due to an anatomically enlarged single common atrium. The extracardiac findings consisted of two bilobar lungs, dysmorphic facies, low-set ears, nuchal fold edema, and small kidneys located in the iliac fossa. These findings are conclusive evidence that left atrial isomerism is a more complex syndrome. The genetic tests of the parents did not reveal any translocations of chromosomes 18 and 20 when the Fluorescent in situ Hybridization (FISH) analysis was assessed. The antenatal detection of corroboration between different structural abnormalities using serial ultrasound examinations and cardiac abnormalities, together with the detection of the affected chromosomes, improves the genetic counseling regarding the prognosis of the fetus and the recurrence rate of the condition for siblings.

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Ichikawa, Yoichiro, Nobuyuki Kanemaki et Kazutaka Kanai. « Breed-Specific Skull Morphology Reveals Insights into Canine Optic Chiasm Positioning and Orbital Structure through 3D CT Scan Analysis ». Animals 14, n^o 2 (7 janvier 2024) : 197. http://dx.doi.org/10.3390/ani14020197.

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This study’s CT scan-based morphometric analysis of 50 adult dogs explored the relationship between skull shape variations (determined by the skull index, SI), optic chiasm, optic canals, and orbital shape. Dogs were classified as brachycephalic (SI ≥ 59), mesocephalic (SI ≥ 51 but <59), and dolichocephalic (SI < 51). No significant age or weight differences were observed. Skull lengths (brachycephalic: 11.39 ± 1.76 cm, mesocephalic: 15.00 ± 2.96 cm, dolichocephalic: 17.96 ± 3.44 cm) and facial lengths (brachycephalic: 3.63 ± 1.00 cm, mesocephalic: 6.46 ± 1.55 cm, dolichocephalic: 8.23 ± 1.03 cm) varied significantly, with shorter orbital depths (brachycephalic: 2.58 ± 0.42 cm, mesocephalic: 3.19 ± 0.65 cm, dolichocephalic: 3.61 ± 0.77 cm) in brachycephalic dogs. The optic chiasm-to-inion horizontal length ratio to cranial horizontal length positively correlated with the SI (r = 0.883, p < 0.001), while the ratio to neurocranial length showed no SI correlation (range: 55.5–75.0). Brachycephalic breeds had a significantly wider optic canal angle (93.74 ± 16.00°), along with broader lacrimal-zygomatic and zygomatic frontal process angles. These findings highlight the zygomatic bone’s role in influencing breed-specific orbital variations by connecting the face to the neurocranium, projecting the orbital rim outward and forward with facial shortening.

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Kazerani, F., I. V. Shamshev, J. Morinière et S. Thorn. « New records of Empididae and Hybotidae (Insecta : Diptera) from Hyrcanian forest in Iran and Azerbaijan ». Far Eastern entomologist 462 (6 septembre 2022) : 20–28. http://dx.doi.org/10.25221/fee.462.3.

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The genus Dolichocephala Macquart, 1823 of the family Empididae is recorded for the first time from Iran and Azerbaijan, including one species D. monae Joost, 1981. A neighbour-joining tree based on genetic divergences on the CO1 gene within nine species of Dolichocephala is provided. In addition, the genus Oropezella Collin, 1926 of the family Hybotidae (one species O. sphenoptera (Loew, 1873)) and two species of the subgenus Empis s. str. of the genus Empis Linnaeus, 1758 (E. (E.) earina Collin, 1960 and E. (E.) temryukiensis Kustov et Shamshev, 2013) of the family Empididae are reported for the first time from the territory of Iran. The female of E. (E.) temryukiensis is described for the first time.

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van der Weele, Ruud, Jürgen Kappert et Jozef Oboňa. « Dolichocephala ocellata (Costa, 1854) (Diptera, Empididae) new to Slovakia ». Acta Musei Silesiae, Scientiae Naturales 66, n^o 2 (1 novembre 2017) : 97–100. http://dx.doi.org/10.1515/cszma-2017-0010.

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Abstract The first record of Dolichocephala ocellata (Costa, 1854) (Diptera, Empididae) for the territory of Slovakia and Central Europe is presented. This increases the number of known empidid species for Slovakia to 286.

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ZWICK, PETER. « A correction and addition to Zwick (2023) : A new subgenus of Neoperla (Plecoptera, Perlidae) ». Zootaxa 5428, n^o 3 (22 mars 2024) : 449–50. http://dx.doi.org/10.11646/zootaxa.5428.3.8.

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Correa, Silvan, Rogério H. Lopes Motta, Milena B. Fellipe Silva, Sidney R. Figueroba, Francisco C. Groppo et Juliana C. Ramacciato. « Position of the Mandibular Foramen in Different Facial Shapes Assessed by Cone-Beam Computed Tomography - A Cross-Sectional Retrospective Study ». Open Dentistry Journal 13, n^o 1 (31 décembre 2019) : 544–50. http://dx.doi.org/10.2174/1874210601913010544.

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Purpose: The mandibular foramen, located on the internal surface of the mandibular ramus, is an important anatomical landmark for the success during the inferior alveolar nerve block. This cross-sectional retrospective study aimed to evaluate the location of the mandibular foramen through Cone-Beam Computed Tomography (CBCT) in different facial shapes. Materials and Methods: The determination of the location of the mandibular foramen was performed using CBCT of mesocephalic, dolichocephalic and brachycephalic patients (n=40 each). The ramus width (W), the distance from the mandibular foramen to the deepest point of the anterior border of the mandibular ramus (D), the distance from the mandibular foramen to the lowest point of the mandibular notch (V) and the distance from the inferior border of the mandible to the lowest point in of the mandibular border (R), as well as the ratios W/D and V/R, were measured. ANCOVA, two-way ANOVA and Chi-square tests were used to analyze the variation among the facial shapes. Results: The ramus width (W) was greater (p<0.0001) in the brachycephalic (28.4±0.5 mm) than in both mesocephalic (26.8±0.36 mm) and dolichocephalic (25.5±0.39 mm) patients. D (p=0.0433) and R (p=0.0072) were also greater in the brachycephalic (17.7±0.36 mm; 43.4±0.75 mm, respectively) than dolichocephalic (16.5±0.3 mm; 40.3±0.63 mm, respectively), but both did not differ from mesocephalic (17.3±0.36 mm; 41.8±0.66 mm, respectively) patients. The other measurements (V, W/D and R/V) did not significantly differ among facial shapes. Conclusion: The localization of the mandibular foramen was, in the horizontal direction, more posterior in the brachycephalic patients and, in the vertical direction, higher in the dolichocephalic patients, when compared to the other groups analyzed. Thus, the anatomic data found in this study may help dentists to increase the success of the inferior alveolar nerve block and prevent surgical complications.

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Sazonova, O. M., O. Yu Vovk, Yu M. Vovk, D. O. Hordiichuk et S. O. Dubina. « Craniometric characteristic of the visceral skull in adulthood ». Biomedical and Biosocial Anthropology, n^o 32 (20 septembre 2018) : 5–12. http://dx.doi.org/10.31393/bba32-2018-01.

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In relation with the development of clinical endovasive surgery, neurosurgery, maxillofacial surgery there is an urgent need for their improvement. Recent year’s osteological and orthopedic areas of medicine have been rapidly developed; it requires an additional data on the age-related and individual anatomical variability. The purpose of the study – is to establish the range of anatomical variability of facial skull in adulthood taking in account the extreme forms, sizes and relations according to skull shapes. The research was conducted on a study of 100 bone samples of coherent and fragmented skulls from the collections of anatomy department of Kharkiv National Medical University. It was investigated 58 male skulls and 42 female skulls in 25-60 years old age. To establish an individual anatomical variability of the bone structures, was determined a number of main indices using the well-known craniodivider. All calculations performed by computer program "SPSS Statistics 17.0" using the digital standard package of the tables and initial data. It is proved that the highest range of the arithmetic average of zygomatic sizes (zy-zy) related with representatives of brachycephalic type of the skull, in adulthoods with mesocephalic type it decreases, the minimal range has been found in dolichocephalic type of the head and skull. The lower zygomatic diameter - the size between points go-go, also decreases in the arithmetic average from brachycephalic to dolichocephalic types that is associated with the gradual narrowing and lengthening of the visceral skull in adulthood. More stable results were found determining the forehead width (ft-ft). This parameter tends to decrease from brachycephalic to dolichocephalic. More advanced type of facial structure is defined in brachycephalic adulthoods, the narrowed forehead shape related with dolichocephalic type. For modern craniological estimation of the visceral skull, the size n-pr used to calculate special indices. According to our data, in brachycephalic males this parameter varies from 5.0 to 6.9 cm; females - between 4.8-6.6 cm. In representatives of mesocephalic type, the n-pr ranges in 10.0-11.6 cm. In people with dolichocephalic type, this altitude parameter increased in males from 5.7 to 7.9 cm, females - from 5.5 to 7.6 cm. It was also established that Ind1 has a wide range of variability, especially in brachycephalic males – 83.50 ± 9.70 and in females – 87.00 ±7.80, which includes a variety of visceral skull structure in people of different age. The range of this index in mesocephalic people is less – 86.00 ± 3.20 (males) and 85.30 ± 3.40 (females). Accordingly, in dolichocephalic type complete visceral index is observed in range – 91.20 ± 4.40 (males) and 91.10 ± 2.90 (females). Thus, it is proved that the specific type of visceral skull – europrosopic is specific for the people of Kharkiv region. It is characterized by increased latitudinal sizes: zy-zy, po-po and go-go, with a slight decrease in altitude parameters of the visceral skull n-gn and n-pr. Depending on the range of variability of individual parameters of the visceral skull - it will be possible to suggest the most effective and rational ways of surgical interventions and accesses.

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IVKOVIĆ, MARIJA, MARKO ČORKALO et MICHAL TKOČ. « Aquatic dance flies of Czech Republic (Empididae : Clinocerinae and Hemerodromiinae) : new records and updated species list ». Zootaxa 4790, n^o 1 (10 juin 2020) : 76–90. http://dx.doi.org/10.11646/zootaxa.4790.1.4.

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New records are provided for aquatic dance flies from Czech Republic, with new distribution records for 19 species in six different genera. Four species are newly recorded from Czech Republic: Dolichocephala ocellata (Costa, 1854), Kowarzia tenella (Wahlberg, 1844), Wiedemannia insularis Collin, 1927 and Wiedemannia wachtli (Mik, 1880). There are now 43 species of aquatic dance flies recorded from Czech Republic.

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Rozanski, Elizabeth A., Cathy L. Greenfield, Joel C. Alsup, Brendan C. McKiernan et Laura L. Hungerford. « Measurement of upper airway resistance in awake untrained dolichocephalic and mesaticephalic dogs ». American Journal of Veterinary Research 55, n^o 8 (1 août 1994) : 1055–59. http://dx.doi.org/10.2460/ajvr.1994.55.08.1055.

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Summary A technique for measuring upper airway resistance was developed in awake untrained dolichocephalic and mesaticephalic dogs. Twenty healthy dogs, 10 Collies (group A—dolichocephalic) and 10 mixed-breed dogs (group B—mesaticephalic), were studied. All dogs tolerated the procedure well, and adverse effects were not observed. Mean (± sem) value for upper airway resistance was 7.1 ± 0.50 cm of H2O/L/s. There was a trend toward lower upper airway resistance (Ruaw) values in group-A dogs, compared with those in group-B dogs. Values of Ruaw were reproducible for an individual dog. The mean individual dog coefficient of variation for Ruaw was 7.5%. The overall Ruaw coefficient of variation for all 20 dogs was 31.4%. This technique for measuring upper airway resistance in dogs is clinically applicable for objectively assessing response to treatment of obstructive upper airway disorders.

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Loening, Nikolaus M., Zachary N. Wilson, Pamela A. Zobel-Thropp et Greta J. Binford. « Solution Structures of Two Homologous Venom Peptides from Sicarius dolichocephalus ». PLoS ONE 8, n^o 1 (14 janvier 2013) : e54401. http://dx.doi.org/10.1371/journal.pone.0054401.

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