Articles de revues : « Skeletal Dysplasie »

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Sahoo, Jagannatha, P. Hemanta Kumar et G. Jagadeesh. « An Interesting Form of Osteochondrodystrophy–A Case Report of a Family ». Indian Journal of Physical Medicine and Rehabilitation 23, n^o 1 (2012) : 29–31. http://dx.doi.org/10.5005/ijopmr-23-1-29.

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Abstract A 12-year-old boy presented with progressive increasing deformity of both knee joints since last 10 years. The radiograph of femor, tibia and phalanges showed different dysplastic changes of epiphysis. It showed a different skeletal dysplastic nature to multiple epiphysial dysplasias. Silfverskiöld described similar types of skeletal dysplasia.

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Sasikumar, Chinnu, Ketaki Utpat, Unnati Desai et Jyotsna M. Joshi. « Acromesomelic Dysplasia with Interstitial Lung Disease : A Unique Association ». International Journal of Recent Surgical and Medical Sciences 04, n^o 01 (janvier 2018) : 029–31. http://dx.doi.org/10.5005/jp-journals-10053-0067.

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ABSTRACTAcromesomelic dysplasia is an extremely uncommon skeletal dysplasia with an autosomal recessive inheritance. It is characterized by a constellation of skeletal anomalies. Respiratory impediments have been sporadically reported earlier in various skeletal dysplasias. However, respiratory affection in acromesomelic dysplasia has not been elucidated earlier. We herein report a case of acromesomelic dysplasia associated with interstitial lung disease (ILD). Diagnosis of acromesomelic dysplasia was based on radiographs of whole skeleton.

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Gucev, Z., G. Kalcev, N. Laban, Z. Bozinovski, N. Popovski, A. Saveski, B. Daskalov, D. Plaseska-Karanfilska et V. Tasic. « Characteristic diagnostic clues of metatropic dysplasia : The lumbothoracic humpback with dumbbell appearance of the long bones ». Balkan Journal of Medical Genetics 21, n^o 2 (31 décembre 2018) : 35–38. http://dx.doi.org/10.2478/bjmg-2018-0025.

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Abstract Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Laboratory investigations revealed normal values for calcium, phosphorus and alkaline phosphatase. He was short (-3.5 SDS), his mental development was normal, and he started to walk at the age of 22 months. The diagnostic clue for the diagnosis of metatropic dysplasia was the presence of the hump back in the upper lumbar and lower thoracic vertebrae, in addition to a long and narrow chest. An X-ray survey of the skeleton revealed platyspondyly, dysplastic metaphyses with dumbbell appearance of the long bones, kyphoscoliosis, and narrow and elongated thorax with short ribs. This is the first patient with MD in the Republic of Macedonia. Knock-knees were the cause of his referral, as a peculiarity of his phenotype. The very presence of the hump back, and the dumbbell appearance of the long bones distinguished the MD from other bone dysplasias with similar characteristics. We believe that the presence of those two features can shorten the path to accurate diagnosis in the crowded field of overlapping skeletal dysplasias. The diagnosis of MD in this patient was further confirmed by the discovery of the mutation c.2396C>T; p.Pro799Leu (P799L) of the TRPV4 gene.

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Kapoor, Nikhil, et Vandana Chaddha. « Fetal Skeletal System ». Donald School Journal of Ultrasound in Obstetrics and Gynecology 4, n^o 4 (2010) : 391–403. http://dx.doi.org/10.5005/jp-journals-10009-1159.

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ABSTRACT The prevalence of skeletal dysplasias is between 1 and 2000, and 1 and 4000 live births. While here are over 200 skeletal dysplasias approximately four disorders comprise 70% of the total: Achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis. The appropriate identification of lethal skeletal dysplasia is important not only for current pregnancy management, but also for genetic counseling concerning future pregnancies. Detection of skeletal dysplasias is usually possible by prenatal ultrasound, an accurate specific diagnosis is possible by radiologic, pathologic and molecular genetic examination. A total body ultrasound approach should include assessment of the following: Limbs, long bones and extremities, bone mineralization, any joint contractures, joint dislocations, fetal calvarium, spine and thorax.

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Kim, Hwa Young, et Jung Min Ko. « Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood ». Annals of Pediatric Endocrinology & ; Metabolism 27, n^o 2 (30 juin 2022) : 90–97. http://dx.doi.org/10.6065/apem.2244114.057.

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Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.

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Rama, Gabriel, Wendy K. Chung, Christopher M. Cunniff et Usha Krishnan. « Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia ». Cardiology in the Young 27, n^o 4 (12 janvier 2017) : 797–800. http://dx.doi.org/10.1017/s1047951116002006.

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AbstractAcromelic dysplasias are a group of skeletal dysplasias characterised by short-limbed short stature with other distinctive phenotypic features including small hands and feet and stiff joints. Geleophysic dysplasia is an acromelic dysplasia that is associated with characteristic facial features, progressive cardiac valvular thickening, and tracheal stenosis. Owing to overlapping clinical features with other types of short-limbed skeletal dysplasias, it is important to make a precise diagnosis as they have different cardiac morbidity and mortality. We present the cases of three patients with geleophysic dysplasia and progressive mitral valve disease to emphasise the natural history of this disorder and provide guidance regarding cardiac health supervision in these individuals.

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Piróg, Katarzyna A., et Michael D. Briggs. « Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review ». Journal of Biomedicine and Biotechnology 2010 (2010) : 1–13. http://dx.doi.org/10.1155/2010/686457.

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Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.

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Sasaki-Adams, Deanna M., Jeffrey W. Campbell, Gela Bajelidze, Marcelo C. Assis, William G. Mackenzie et Ann M. Ritter. « Level of the conus in pediatric patients with skeletal dysplasia ». Journal of Neurosurgery : Pediatrics 5, n^o 5 (mai 2010) : 455–59. http://dx.doi.org/10.3171/2009.12.peds09364.

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Object Skeletal dysplasias are a heterogeneous group of disorders that affect bone development and can result in reduced vertebral body growth and short stature. The level of the conus medullaris is unknown in this population. The purpose of this review was to determine the level of the conus in a population of pediatric patients with skeletal dysplasia. Methods A retrospective chart review of a 7-year period was undertaken at a tertiary care pediatric hospital to identify patients in whom skeletal dysplasia had been diagnosed. Radiographs and MR imaging studies were evaluated to discern the level of the conus with respect to the bony vertebral column. Results Four hundred sixty-seven patients with skeletal dysplasia were identified. One hundred eleven patients had quality MR images. Forty-seven different skeletal dysplasias were observed. The mean conus level was found at the L-1 vertebral body. No difference was noted with respect to the age of the patients or the type of skeletal dysplasia. Two patients (1.7%) had a conus level lower than L-2. Conclusions Skeletal dysplasia leads to abnormal bone formation and can result in short stature. The location of the conus with respect to the vertebral bodies appears to be stable at the L-1 level regardless of patient age or the type of skeletal dysplasia involved. However, the appearance of a low-level conus and associated tethered cord syndrome may be slightly increased in this population.

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Subbarao, K. « Skeletal Dysplasia (Sclerosing dysplasias – Part I) ». Nepalese Journal of Radiology 3, n^o 2 (15 janvier 2014) : 1–10. http://dx.doi.org/10.3126/njr.v3i2.9603.

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Marchini, Marta, Elizabeth Silva Hernandez et Campbell Rolian. « Morphology and development of a novel murine skeletal dysplasia ». PeerJ 7 (4 juillet 2019) : e7180. http://dx.doi.org/10.7717/peerj.7180.

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Background Limb bones develop and grow by endochondral ossification, which is regulated by specific cell and molecular pathways. Changes in one or more of these pathways can have severe effects on normal skeletal development, leading to skeletal dysplasias. Many skeletal dysplasias are known to result from mis-expression of major genes involved in skeletal development, but the etiology of many skeletal dysplasias remains unknown. We investigated the morphology and development of a mouse line with an uncharacterized mutation exhibiting a skeletal dysplasia-like phenotype (Nabo). Methods We used µCT scanning and histology to comprehensively characterize the phenotype and its development, and to determine the developmental stage when this phenotype first appears. Results Nabo mice have shorter limb elements compared to wildtype mice, while clavicles and dermal bones of the skull are not affected. Nabo embryos at embryonic stage E14 show shorter limb cartilage condensations. The tibial growth plate in Nabo mice is wider than in wildtype, particularly in the proliferative zone, however proliferative chondrocytes show less activity than wildtype mice. Cell proliferation assays and immunohistochemistry against the chondrogenic marker Sox9 suggest relatively lower, spatially-restricted, chondrocyte proliferation activity in Nabo. Bone volume and trabecular thickness in Nabo tibiae are also decreased compared to wildtype. Discussion Our data suggest that the Nabo mutation affects endochondral ossification only, with the strongest effects manifesting in more proximal limb structures. The phenotype appears before embryonic stage E14, suggesting that outgrowth and patterning processes may be affected. Nabo mice present a combination of skeletal dysplasia-like characteristics not present in any known skeletal dysplasia. Further genomic and molecular analysis will help to identify the genetic basis and precise developmental pathways involved in this unique skeletal dysplasia.

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Handa, Atsuhiko, Gen Nishimura, Malia Xin Zhan, D. Lee Bennett et Georges Y. El-Khoury. « A primer on skeletal dysplasias ». Japanese Journal of Radiology 40, n^o 3 (25 octobre 2021) : 245–61. http://dx.doi.org/10.1007/s11604-021-01206-5.

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AbstractSkeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with an approximate incidence of 1/5000. Thus, radiologists occasionally encounter skeletal dysplasias in their daily practices, and the topic is commonly brought up in radiology board examinations across the world. However, many radiologists and trainees struggle with this issue because of the lack of proper resources. The radiological diagnosis of skeletal dysplasias primarily rests on pattern recognition—a method that is often called the “Aunt Minnie” approach. Most skeletal dysplasias have an identifiable pattern of skeletal changes composed of unique findings and even pathognomonic findings. Thus, skeletal dysplasias are the best example to which the Aunt Minnie approach is readily applicable.

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Byrne, Alicia B., Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W. Schreiber, Milena Babic et al. « Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis ». Journal of Medical Genetics 57, n^o 7 (27 janvier 2020) : 454–60. http://dx.doi.org/10.1136/jmedgenet-2019-106700.

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BackgroundPseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a ‘dysplasia with multiple joint dislocations’; however, the molecular aetiology of the disorder is currently unknown.MethodsWhole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with PDD, in order to identify the underlying genetic cause. The functional effects of the identified variants were characterised using primary cells and human cell-based overexpression assays.ResultsWES resulted in the identification of biallelic variants in the established skeletal dysplasia genes, B3GAT3 (family 1) and CANT1 (family 2). Mutations in these genes have previously been reported to cause ‘multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects’ (‘JDSCD’; B3GAT3) and Desbuquois dysplasia 1 (CANT1), disorders in the same nosological group as PDD. Follow-up of the B3GAT3 variants demonstrated significantly reduced B3GAT3/GlcAT-I expression. Downstream in vitro functional analysis revealed abolished biosynthesis of glycosaminoglycan side chains on proteoglycans. Functional evaluation of the CANT1 variant showed impaired nucleotidase activity, which results in inhibition of glycosaminoglycan synthesis through accumulation of uridine diphosphate.ConclusionFor the families described in this study, the PDD phenotype was caused by mutations in the known skeletal dysplasia genes B3GAT3 and CANT1, demonstrating the advantage of genomic analyses in delineating the molecular diagnosis of skeletal dysplasias. This finding expands the phenotypic spectrum of B3GAT3-related and CANT1-related skeletal dysplasias to include PDD and highlights the significant phenotypic overlap of conditions within the proteoglycan biosynthesis pathway.

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Adhikari, S., U. Shrestha, P. Nepal et JL Singh. « Bilateral Congenital Cataract Associated with Multiple Epiphyseal Dysplasia : A case Report ». Journal of Nepal Paediatric Society 32, n^o 1 (29 février 2012) : 71–72. http://dx.doi.org/10.3126/jnps.v32i1.5434.

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Cataract in children has varied etiology. It may be associated with systemic diseases including skeletal dysplasias. However cataract in Multiple Epiphyseal Dysplasia is a rare association. A child presented with bilateral dense posterior sub capsular cataract and multiple bony abnormalities. Clinical and radiographic findings suggested the disease to be Multiple Epiphyseal Dysplasia. The aim of presenting this case is to report a case of congenital cataract having a rare association with the Multipe Epiphyseal Dyspalsia. Key words: Congenital cataract; Multiple Epiphyseal Dysplasia; Skeletal dysplasia DOI: http://dx.doi.org/10.3126/jnps.v32i1.5434 J. Nepal Paediatr. Soc. Vol.32(1) 2012 71-72

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Soell, Julie. « Camptomelic Dysplasia : A Case Study ». Neonatal Network 18, n^o 2 (mars 1999) : 41–48. http://dx.doi.org/10.1891/0730-0832.18.2.41.

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Camptomelic dysplasia (CMD) is a congenital shortlimb skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract. Perinatal and early neonatal death from respiratory failure is common. Diagnosis and long-term management of the infant with CMD require a coordinated effort among many specialists. This article presents a general overview of skeletal dysplasias and camptomelic dysplasia. It concludes with a case study illustrating the many problems infants with CMD may have and the complex treatment and follow-up services they require.

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Balasubramaniyan, Muthuvel, Anupriya Kaur, Anindita Sinha et Nirmal Raj Gopinathan. « Metaphyseal dysplasia, Spahr type : a mimicker of rickets ». BMJ Case Reports 12, n^o 8 (août 2019) : e230257. http://dx.doi.org/10.1136/bcr-2019-230257.

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Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.

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Subbarao, K. « Skeletal Dysplasia (Non - Sclerosing dysplasias – Part II) ». Nepalese Journal of Radiology 4, n^o 1 (30 octobre 2014) : 1–11. http://dx.doi.org/10.3126/njr.v4i1.11364.

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Gabra, Pavan, Manisha Jana, Priyanka Naranje, Neerja Gupta, Madhulika Kabra, Arun K. Gupta et Richa Yadav. « Spine radiograph in dysplasias : A pictorial essay ». Indian Journal of Radiology and Imaging 30, n^o 04 (octobre 2020) : 436–47. http://dx.doi.org/10.4103/ijri.ijri_395_20.

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AbstractSpine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. In this article we will discuss about a few common lethal and non-lethal skeletal dysplasias and their characteristic imaging findings; primarily focusing on the spine radiograph.

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Sapkota, Karna K., Veena Gupta et CP Shrivastav. « “Pyknodysostosis” A Case Report ». Journal of Nepal Paediatric Society 29, n^o 2 (16 juillet 2009) : 101–3. http://dx.doi.org/10.3126/jnps.v29i2.2049.

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Pyknodysostosis is a rare disorder of skeletal dysplasia that is inherited as an autosomal recessive genetic trait. Several mutations have been found in the gene encoding cathepsin K - a lysosomal cysteine protease and the gene situated at 1q21. A mutation in this gene leads to loss of enzyme for osteoclastic activities responsible for the metabolism of skeletal system leading to defective bone remodeling and resorption and various other skeletal abnormalities. Here we report a case of 12 year old female from mid-western hilly region of Nepal with Pyknodysostosis having fracture femur and other skeletal dysplasia. The characteristic features of this syndrome are dwarfism, large open fontenelles, wide cranial sutures, small retrograde mandible, multiple fractures and osteosclerosis, dental abnormalities, short and broad hands and feet, blue sclera, multiple fractures and nail may be dysplastic. Key words: Pyknodysostosis, dysplasia, short stature doi: 10.3126/jnps.v29i2.2049 J. Nepal Paediatr. Soc. Vol 29, No. 2, pp.101-103

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Waratani, Miyoko, Fumitake Ito, Yukiko Tanaka, Mabuchi Aki, Taisuke Mori et Jo Kitawaki. « Diagnosing Fetal Skeletal Dysplasia Using Three-Dimensional Computed Tomography : A Study Protocol for an Interventional Study ». Journal of Biomedical Research & ; Environmental Sciences 1, n^o 7 (novembre 2020) : 292–96. http://dx.doi.org/10.37871/jbres1156.

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Background: Fetal skeletal dysplasias are a group of skeletal dysplasias occurring during the fetal stage. As the use of fetal ultrasonography has become widespread, the rate of prenatal diagnosis of skeletal dysplasias has increased. However, many fetal skeletal dysplasia phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. Fetal imaging methods that are the basis of diagnosing fetal skeletal dysplasias include ultrasonography and three-dimensional computed tomography. The use of three-dimensional computed tomography requires specific imaging techniques and cannot easily be performed at all facilities. In the present study, we propose to conduct a survey for the preparation of a protocol with a low risk, and a high diagnostic accuracy. Methods: In total, 50 pregnant women who undergo three-dimensional computed tomography for the diagnosis of fetal skeletal dysplasias will be included. The primary outcome is prenatal diagnostic accuracy for fetuses with skeletal dysplasias. The secondary outcome is the safety from radiation exposure. Results and conclusion: Three-dimensional computed tomography should be considered for the prenatal diagnosis of fetal skeletal dysplasias, as it is important to judge whether the prognosis is favorable or lethal. When considering the risk of radiation exposure, high quality images that are adequate for a diagnosis have been obtained using low-dose three-dimensional computed tomography scans. This approach reduces the level of radiation to which the pregnant woman and fetus are exposed. Trial registration: University hospital Medical Information Network (UMIN) Center: Trial registration number is UMIN000034744. Data of registration is October 01, 2018. (URL: https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000039610).

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Ključevšek, Damjana. « 3. The current role of skeletal survay in children with suspected skeletal dysplasia ». Central European Journal of Paediatrics 14, n^o 1 (7 mars 2018) : 22–26. http://dx.doi.org/10.5457/p2005-114.195.

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Markova, Tatyana V., Vladimir M. Kenis, Evgenii V. Melchenko, Tatyana S. Nagornova, Aysylu F. Murtazina et Elena L. Dadali. « Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the <i>FBN1</i> ; gene ». Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 9, n^o 3 (4 octobre 2021) : 327–37. http://dx.doi.org/10.17816/ptors65367.

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BACKGROUND: Geleophysic dysplasia and acromicric dysplasia are rare hereditary diseases characterized by dwarfism and dysplastic skeletal features. In the literature, only a few cases of geleophysic dysplasia and acromicric dysplasia caused by mutations in the FBN1 gene are described. CLINICAL CASES: A description of the clinical and genetic characteristics of three female patients with acromelic dysplasias caused by three types of missense mutations in the FBN1 gene is presented. In two patients, on the basis of clinical manifestations and radiographic examination, acromicric dysplasia, and in one patient geleophysic dysplasia were diagnosed. It was shown that all identified mutations were localized in exons of the FBN1 gene encoding the amino acid sequence of the fifth domain, which has homology with transforming growth factor-beta. DISCUSSION: We have analyzed the clinical and genetic correlations to confirm the previously stated hypothesis about the occurrence of a severe phenotype of geleophysic dysplasia in patients with the c.5206T C mutation. This mutation is characterized by the replacement of cysteine by arginine in the position of the polypeptide chain leading to moderate clinical manifestations of acromicric dysplasia in patients with the c.5284 G A (p. Gly1762Ser). It was shown that the previously undescribed substitution c.5177G A (p.Gly1726Asp and another previously described mutation in this codon resulted in the replacement of glutamine with valine. This mutation causes the appearance of a less pronounced phenotype of AD. CONCLUSIONS: Based on the results of the examination of three Russian patients and analysis of clinical and radiographic parameters described in the literature, we reported that mutations in the FBN1 gene disrupted the amino acid sequence of the fifth like transforming growth factor-beta domain of fibrillin type 1. Importantly, these mutations are responsible for the occurrence of geleophysic dysplasia and acromicric dysplasia. However, the most severe clinical manifestations were observed in patients with mutations leading to the substitution of cysteine for arginine at the position of the polypeptide chain 1736. This may lead to affecting the transforming growth factor-beta signaling pathway.

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Panchapakesan, Kailash, Brennan Roper, Kate Mowrey, Paul Hillman et Shiraz Younas. « Metaphyseal Dysplasia, Spahr Type ; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings ». Journal of Orthopaedic Case Reports 12, n^o 9 (2022) : 20–25. http://dx.doi.org/10.13107/jocr.2022.v12.i09.2998.

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Introduction: Metaphyseal dysplasia describes a heterogenous group of skeletal dysplasias with varying inheritance patterns, which preferentially demonstrate dysplastic changes within the metaphyseal region of long bones. The clinical consequences of these dysplastic changes are highly variable, but most uniformly include decreased stature, increased upper-to-lower segment proportions, genu varus, and knee pain. Metaphyseal dysplasia, Spahr type (MDST) [MIM: 250400] is a rare primary bone dysplasia that was first clinically described in 1961 in four of five siblings with moderate short stature, metaphyseal dysplasia, mild genu vara, and no biochemical signs of rickets. For many decades, MDST was a clinical diagnosis, but the underlying genetic etiology was determined to be due to biallelic pathogenic variants in matrix metalloproteinases 13 [MIM: 600108] in 2014. Clinical case reports of this disease are limited; this paper aims to present the clinical manifestations and treatment for 3 Filipino siblings with a confirmed of MDST. Case Report: Patient 1 presented at age 8 for medial ankle pain and bilateral lower extremity bowing of several years. Radiographs showed bilateral metaphyseal irregularities, and the patient underwent bilateral lateral distal femoral and proximal tibial physeal tethering at 9 years 11 months. At 16 months post tethering, she reports reduced pain although varus deformity persists. Patient 2 presented to clinic at age 6 for concern of bilateral bowing. He has had no reported pain and demonstrates milder metaphyseal irregularities than patient 1 on radiographs. To date, patient 2 has no significant changes or gross deformity. Patient 3 examined at 19 months without observable deformity. Conclusion: Suspicion for MDST should be elevated in the setting of short-stature, upper-to-lower segment disproportionality, focal metaphyseal irregularities, and normal biochemical presentation. At present, no standard of care exists for treatment of patients with these deformities. Further, identification and evaluation of impacted patients are needed to progressively optimize management.

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Onor, Gabriel I., Sercan Yalcin, Scott G. Kaar, J. Lee Pace, Paolo Ferrua et Lutul D. Farrow. « The Evaluation of Trochlear Osseous Morphology : An Epidemiologic Study ». Orthopaedic Journal of Sports Medicine 9, n^o 4 (1 avril 2021) : 232596712199454. http://dx.doi.org/10.1177/2325967121994548.

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Background: The femoral trochlea is considered the most significant osseous factor affecting stability in the patellofemoral joint. The true prevalence of trochlear dysplasia in the general population is largely unknown. Purpose/Hypothesis: To investigate the prevalence of trochlear dysplasia in the general population. Our hypothesis was that, while trochlear dysplasia is not uncommon, there is a low prevalence of severe dysplasia in the general population. Study Design: Descriptive epidemiology study. Methods: Five observers were asked to evaluate 692 skeletally mature femoral specimens from 359 skeletons for trochlear dysplasia at 2 time points. We further subclassified the dysplastic trochlea in 62 femora with the highest rated degree of dysplasia. Results: Sex ( P = .11) and race ( P = .2) had no effect on the severity of dysplasia. Interobserver reliability was excellent (0.906 and 0.904), and intraobserver reliability was good to excellent (0.686 to 0.808). The percentages of trochlea graded as normal, mildly dysplastic, moderately dysplastic, and severely dysplastic were 61.5%, 21.4%, 12.7%, and 4.4%, respectively, in the first evaluation, and 58.5%, 23.7%, 12.7%, and 5.1% in the second evaluation. Of the 62 trochlea with the highest scores for dysplasia, 36 had trochlear dysplasia without a supratrochlear spur, 8 had trochlear dysplasia with medial femoral condyle hypoplasia, and 18 had trochlear dysplasia with a supratrochlear spur. Conclusion: Observers with differing degrees of clinical experience had similar opinions on the degree of trochlear dysplasia. Also, our cohort showed that moderate to severe dysplasia is not uncommon, as it is present in approximately 17% of knees in our cohort. Our findings also suggest that clinicians are speaking the same language when identifying and describing trochlear dysplasia on gross inspection.

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Nerlich, A. G., et Peter Freisinger. « Severe rhizomelic skeletal dysplasia in a museum skeleton ». Skeletal Radiology 27, n^o 1 (23 janvier 1998) : 46–49. http://dx.doi.org/10.1007/s002560050336.

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Mikhailova, L. K. « Third International Congress on Skeletal Dysplasias 71 (Literature Review) ». N.N. Priorov Journal of Traumatology and Orthopedics 5, n^o 3 (15 septembre 1998) : 71. http://dx.doi.org/10.17816/vto104972.

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In August 1997, the 3rd International Congress on Skeletal Dysplasia was held in Los Angeles, USA. Scientists from Argentina, Belgium, Great Britain, Venezuela, Finland, France, Germany, Egypt, Italy, Israel, Japan, Korea, Macedonia, Mexico, the Netherlands, New Zealand, Norway, Portugal, Spain, Sweden, Switzerland, Taiwan, the USA, took part in its work. Recall that the 1st Congress on Skeletal Dysplasias, organized by Prof. A. Poznanski, was held in Chicago in 1993, and the 2nd Congress, organized by Prof. P. Maroteaux, in Versailles in 1995.

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Mustafa, Manal, Nabil Moghrabi et Bassam Bin-Abbas. « Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation : Is It Just an Association ? » Case Reports in Endocrinology 2014 (2014) : 1–6. http://dx.doi.org/10.1155/2014/840492.

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FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia. Insulin insensitivity and acanthosis nigricans are uncommonly seen in hypochondroplasia patients with FGFR3 mutations which may represent a new association. We aim to describe the association of hypochondroplasia, acanthosis nigricans, and insulin resistance in a child harboring FGFR3 mutation. To our knowledge, this is the first case report associating the p.N540 with acanthosis nigricans and the second to describe hyperinsulinemia in hypochondroplasia. This finding demonstrates the possible coexistence of insulin insensitivity and acanthosis nigricans in hypochondroplasia patients.

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Zhu, Xiao, Kelly N. Evans, Areeg El-gharbawy, Jonathan Y. Lee, Jack E. Brooker, Noel Jabbour, Elizabeth C. Tyler-Kabara, Suneeta Madan-Khertarpal, Joseph E. Losee et Jesse A. Goldstein. « Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia ». Cleft Palate-Craniofacial Journal 55, n^o 5 (28 février 2018) : 773–77. http://dx.doi.org/10.1177/1055665618758102.

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Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia.

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Lekovic, Gregory P., Nitin R. Mariwalla, Eric M. Horn, Steven Chang, Harold L. Rekate et Nicholas Theodore. « Skeletal dysplasia involving the subaxial cervical spine ». Neurosurgical Focus 20, n^o 2 (février 2006) : 1–6. http://dx.doi.org/10.3171/foc.2006.20.2.9.

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✓ Because skeletal dysplasias are primary disorders of bone, they have not been commonly understood as neurosurgical diseases. Nevertheless, neurosurgical complications are commonly encountered in many cases of dysplasia syndromes. The authors present two cases of skeletal dysplasia that caused overt instability of the cervical spine. One patient with a diagnosis of Gorham disease of the cervical spine was treated with prolonged fixation in a halo brace after an initial attempt at instrumentation with a posterior occiput–C4 fusion. The other patient, who at birth was identified to have camptomelic dysplasia, has been treated conservatively from the outset. Although these two patients presented with different disorders—in one patient adequate mature bone never formed and in the other patient progressive bone loss became apparent after a seemingly normal initial development—these cases demonstrate unequivocally that surgical options for fusion are ultimately limited by the quality of the underlying bone. In patients in whom the bone itself is inadequate for use as a substrate for fusion, there are currently limited treatment options. Future improvements in our understanding of chondrogenesis and ossification may lead to the design of superior methods of encouraging fusion in these patients; however, at the present time, long-term maintenance in a halo brace may, in fact, be the only treatment.

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Thapa, Mahesh, Jeffrey Otjen, Shawn Kamps et Anh-Vu Ngo. « Skeletal Dysplasias : Radiologic Approach with Common and Notable Entities ». Seminars in Musculoskeletal Radiology 22, n^o 01 (février 2018) : 066–80. http://dx.doi.org/10.1055/s-0037-1608005.

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AbstractSkeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.

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Markova, Tatyana, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali et Sergey Kutsev. « Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients : Part I ». Genes 13, n^o 1 (13 janvier 2022) : 137. http://dx.doi.org/10.3390/genes13010137.

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The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

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Т.В., Маркова,, Кенис, В.М., Мельченко, Е.В., Очирова, П.В., Нагорнова, Т.С., Цабай, П.Н., Осипова, Д.В. et al. « Clinical and genetic characteristics of TRPV4-associated skeletal dysplasias in Russian patients ». Nauchno-prakticheskii zhurnal «Medicinskaia genetika, n^o 4 (29 avril 2022) : 25–37. http://dx.doi.org/10.25557/2073-7998.2022.04.25-37.

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Введение. TRPV4-ассоциированные скелетные дисплазии - группа генетически гетерогенных заболеваний с аутосомно-доминантным типом наследования, обусловленных мутациями в гене TRPV4. Он содержит 16 экзонов и кодирует белок семейства трансмембранных кальциевых каналов. К настоящему времени описано семь нозологических форм этой группы скелетных дисплазий, общая распространенность которых не превышает 1:1 000 000. Основными являются спондилометафизарная дисплазия Козловского (OMIM:184252) и метатропная дисплазия (OMIM:156530). Цель: описание клинико-генетических характеристик российских больных со скелетными дисплазиями, вызванными ранее описанными и впервые выявленными мутациями в гене TRPV4. Методы. Проведено комплексное обследование 15 детей из неродственных семей в возрасте от 10 суток жизни до 15 лет, с клинико-рентгенологическими признаками TRPV4-ассоциированных скелетных дисплазий. Для уточнения диагноза использовались генеалогический анализ, клиническое обследование, неврологический осмотр по стандартной методике с оценкой психоэмоциональной сферы, рентгенография и таргетное секвенирование панели, состоящей из 166 генов, ответственных за развитие наследственной скелетной патологии. Результаты. У 7 пациентов диагностирована спондилометафизарная дисплазия Козловского, у 8 пациентов - метатропная дисплазия. В результате молекулярно-генетического исследования у наблюдаемых нами пациентов идентифицировано 7 патогенных вариантов в гене TRPV4, два из которых обнаружены впервые. Как и у ранее обследованных пациентов, у российских пациентов обнаружены две мажорные мутации в гене TRPV4: p.Arg594His у пациентов со спондилометафизарной дисплазией Козловского и p.Pro799Leu у пациентов с метатропной дисплазией. Заключение. Полученные результаты в совокупности с данными литературы позволяют высказать предположение о целесообразности создания системы для скрининга мажорных мутаций у пациентов со спондилометафизарной дисплазией Козловского и метатропной дисплазией, имеющих сходные клинико-рентгенологические проявления. Первоочередное использование такой системы позволит оптимизировать процесс молекулярно-генетической диагностики этих заболеваний. Introduction. TRPV4 -associated skeletal dysplasias are a genetically heterogeneous group of autosomal dominant disorders caused by mutations in the TRPV4 gene. TRPV4 contains 16 exons and encodes a Ca2+-permeable transmembrane channel protein. To date, seven nosological forms within this group of skeletal dysplasias have been described. The overall prevalence of these disorders does not exceed 1:1,000,000. The most frequent forms among this group are spondylometaphyseal dysplasia, Kozlowski type (OMIM:184252) and metatropic dysplasia (OMIM:156530). Objective: to describe the clinical and genetic characteristics of Russian patients with skeletal dysplasia caused by previously reported and newly identified mutations in the TRPV4 gene. Methods. A comprehensive examination of 15 children from unrelated families aged 10 days-15 years with clinical and radiological signs of TRPV4-associated skeletal dysplasia was carried out. To specify diagnosis we used genealogical analysis, clinical examination, neurological examination according to a standard method with an assessment of the psycho-emotional sphere, radiography and sequencing a targeted gene panel including 166 genes responsible for the development of hereditary skeletal disorders. Results. Spondylometaphyseal dysplasia, Kozlowski type was diagnosed in 7 and metatropic dysplasia in 8 patients. 7 pathogenic variants in the TRPV4 gene were identified, of which two were novel. As in previously reported cases, two major mutations in the TRPV4 gene were found in Russian patients: p.Arg594His in patients with spondylometaphyseal dysplasia, Kozlowski type and p.Pro799Leu in patients with metatropic dysplasia. Conclusion. Our findings combined with previously reported results suggest the rationale for creating a genetic screening test to detect major mutations in patients with spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia, which have similar clinical and radiological manifestations. Foremost use of this test will improve the molecular diagnostics of these diseases.

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Marzin, Pauline, et Valérie Cormier-Daire. « New perspectives on the treatment of skeletal dysplasia ». Therapeutic Advances in Endocrinology and Metabolism 11 (janvier 2020) : 204201882090401. http://dx.doi.org/10.1177/2042018820904016.

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The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years.

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Guerra, C., P. Rendeiro, E. Pereira, A. Rosmaninho, R. Nogueira, S. Pereira et P. Tavares. « Microarray for skeletal dysplasias : thanatophoric dysplasia diagnosedin uterousing microarray technology ». Ultrasound in Obstetrics & ; Gynecology 41, n^o 1 (25 décembre 2012) : 95–96. http://dx.doi.org/10.1002/uog.11217.

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Jha, Rakesh, et Charmode Sundip Hemant. « FETAL SKELETAL GROWTH PATTERN ANALYSIS IN FETUSES WITH SKELETAL DYSPLASIA– AN ULTRASONOGRAPHY STUDY IN WESTERN INDIAN POPULATION ». International Journal of Anatomy and Research 8, n^o 3.1 (5 juillet 2020) : 7621–32. http://dx.doi.org/10.16965/ijar.2020.175.

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Weiner, D. S., J. Guirguis, M. Makowski, S. Testa, L. Shauver et D. Morgan. « Orthopaedic manifestations of pseudoachondroplasia ». Journal of Children's Orthopaedics 13, n^o 4 (août 2019) : 409–16. http://dx.doi.org/10.1302/1863-2548.13.190066.

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Purpose In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13.1-p12 encoding the COMP. The COMP gene mutations result in rendering the articular and growth plate cartilages incapable of withstanding routine biomechanical loads with resultant deformity of the joints. The purpose of the study was to characterize the typical orthopaedic findings in pseudoachondroplasia. Methods The charts and radiographs of 141 patients with pseudoachondroplasia were analyzed. This cohort, to our knowledge, represents the largest group of patients describing the typical orthopaedic manifestations of pseudoachondroplasia. Results Patients with pseudoachondroplasia have normal craniofacial appearance with normal intelligence. Short stature is not present at birth and generally appears by two to four years of age. The condition is a form of spondyloepiphyseal dysplasia and the long bones are characterized by dysplastic changes in the epiphysis, metaphysis and vertebral bodies. Radiographically the long bones have altered the appearance and structure of the epiphyses with small irregularly formed or fragmented epiphyses or flattening. The metaphyseal regions of the long bones show flaring, widening or ‘trumpeting’. The cervical (89%) and thoracic and lumbar vertebrae show either platyspondyly, ovoid, ‘cod-fish’ deformity or anterior ‘beaking’. Kyphosis (28%), scoliosis (58%) and lumbar lordosis (100%) are commonly seen. The femoral head and acetabulum are severely dysplastic (100%). The knees show either genu valgum (22%), genu varum (56%) or ‘windswept’ deformity (22%). Conclusion Most commonly these distortions of the appendicular and the axial skeleton lead to premature arthritis particularly of the hips and often the knees not uncommonly in the 20- to 30-year-old age group. Level of Evidence: III

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Upadhyay, Ravi, Claire Ruane, Rachel Umans, Beth A. Pletcher, Aditi Khokhar et Kristin Wong. « A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome ». Case Reports in Endocrinology 2022 (15 mars 2022) : 1–4. http://dx.doi.org/10.1155/2022/8542281.

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Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve–Melchior–Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient’s rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.

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Antsaklis, Aris, et Eleftherios Anastasakis. « Skeletal Dysplasia ». Donald School Journal of Ultrasound in Obstetrics and Gynecology 5, n^o 3 (2011) : 205–12. http://dx.doi.org/10.5005/jp-journals-10009-1197.

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ABSTRACT The word dysplasia originates from the ancient Greek words dys (anomalous) and plasia (formation). Skeletal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of bone and cartilage tissues. These diseases may present either in the form of isolated findings or a phenotypic manifestation of a chromosomal aberration or a genetic disorder. Prenatal diagnosis is mainly on the ultrasonographic appearance, which is usually achieved during the second trimester of pregnancy. Two-dimensional ultrasonography may detect the majority of SD, however, difficulties in the diagnosis as well as the differential diagnosis are frequently arising. In such cases, further evaluation is needed by the use of additional imaging modalities or by invasive procedures, in order to detect an underlying chromosomal abnormality or a single gene disorder. Accurate diagnosis is crucial in order to establish successful genetic counseling as well as appropriate case management. This approach includes the use of three-dimensional ultrasonography and three-dimensional computed tomography; whereas fetal magnetic resonance imaging is less important. These new imaging modalities have an important role in the prenatal multidisciplinary approach of the diagnosis of SD. Despite the indisputable progress that has been achieved during the last few years, in some cases, the antenatal detection of SD delays and is feasible only at the late second or even third trimester. Thus, important ethical and medical issues arise in the antenatal management and counseling of these pregnancies, particularly in the case of lethal SD.

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Shah, Ishani P., Bobin Varghese et James A. Fernandes. « Skeletal dysplasia ». Surgery (Oxford) 35, n^o 1 (janvier 2017) : 52–61. http://dx.doi.org/10.1016/j.mpsur.2016.10.010.

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Shah, Ishani P., Bobin Varghese et James A. Fernandes. « Skeletal dysplasia ». Paediatrics and Child Health 30, n^o 6 (juin 2020) : 209–19. http://dx.doi.org/10.1016/j.paed.2020.03.004.

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Agarwal, Arjit, et Shubhra Agarwal. « Fetal micromelia, thoracic dysplasia and polydactyly revisited : A case-based antenatal sonographic approach ». Ultrasound 27, n^o 3 (15 mai 2019) : 196–201. http://dx.doi.org/10.1177/1742271x19847223.

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Introduction Skeletal dysplasia is a condition associated with various abnormalities of the skeleton and comprises multiple groups of disorders. Antenatal ultrasonographic assessment of the skeletal dysplasia requires a robust and systematic assessment of the long bones, fetal thorax, skull, spine, pelvis, hands and the feet. Large number of diseases, their overlapping phenotypic features and the lack of systematic approach lead to diagnostic inefficiency. A precise molecular diagnosis also requires an elaborate antenatal sonographic assessment to reach a final diagnosis. Case report A fetus with micromelia, thoracic dysplasia and polydactyly was detected on prenatal sonography. An algorithmic approach of this rare combination on prenatal sonography is highlighted. Discussion Fetal micromelia is a relatively common entity which can be subclassified into mild and severe types. The lethal nature of the condition requires assessment of the thoracic biometry which may further narrow down the diagnostic possibilities. The red flags or highlighting features of various conditions like polydactyly, hitch-hiker thumb deformity, ovoid tibia and absent fibula may lead to a specific diagnosis. Conclusion A background knowledge of various types of micromelia, their lethal nature, associations and specific features of various differential skeletal dysplasia will always be useful, if employed in a systematic manner.

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Brown, Emily A., Peter J. Dickinson, Tamer Mansour, Beverly K. Sturges, Miriam Aguilar, Amy E. Young, Courtney Korff et al. « FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs ». Proceedings of the National Academy of Sciences 114, n^o 43 (11 octobre 2017) : 11476–81. http://dx.doi.org/10.1073/pnas.1709082114.

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Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed (PBonferroni = 0.01) and intervertebral disc disease (IVDD) across breeds (PBonferroni = 4.0 × 10−10) both identified a significant association to the same region on CFA12. Whole genome sequencing identified a highly expressed FGF4 retrogene within this shared region. The FGF4 retrogene segregated with limb length and had an odds ratio of 51.23 (95% CI = 46.69, 56.20) for IVDD. Long bone length in dogs is a unique example of multiple disease-causing retrocopies of the same parental gene in a mammalian species. FGF signaling abnormalities have been associated with skeletal dysplasia in humans, and our findings present opportunities for both selective elimination of a medically and financially devastating disease in dogs and further understanding of the ever-growing complexity of retrogene biology.

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Schramm, Thomas, et Helge Mommsen. « Fetal Skeletal Disorders ». Ultraschall in der Medizin - European Journal of Ultrasound 39, n^o 06 (6 septembre 2018) : 610–34. http://dx.doi.org/10.1055/a-0660-9417.

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AbstractSkeletal disorders of the fetus are quite common. The incidence is about 5:1000 pregnancies. The disorders affect the extremities or parts of them (dysmelia), the whole skeleton (skeletal dysplasia), the skull (craniosynostosis) and the spine (dysostosis, caudal regression). About half of these diseases are complex. In the majority of cases the complex disorders are caused by single gene mutations or numeric or structural chromosomal aberrations. We explain the classification and diagnostic criteria for prenatal expert and screening ultrasound based on frequent disorders. The main diagnostic challenge concerning malformations of the limbs and craniosynostosis is to find out if they are isolated or symptoms of certain syndromes. In skeletal dysplasia it is clinically important to differentiate lethal entities from non-lethal.

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Onor, Gabriel, Bonnie Mason et Lutul Farrow. « THE EVALUATION OF SUPRATROCHLEAR OSSEOUS MORPHOLOGY : AN EPIDEMIOLOGIC STUDY ». Orthopaedic Journal of Sports Medicine 7, n^o 3_suppl (1 mars 2019) : 2325967119S0009. http://dx.doi.org/10.1177/2325967119s00095.

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Introduction: Patellar instability can impede activities of daily life. The morphology of the femoral trochlea has significant involvement in maintaining patellofemoral joint stability. Trochlear dysplasia, or a shallow trochlear groove, has been implicated as a risk factor for recurrent patellar dislocation. A supratrochlear spur in the setting of existing trochlear dysplasia can generate further patellar instability. Trochleoplasty has been popularized by some surgeons for the treatment of recurrent patellar instability in the setting of significant trochlear dysplasia. Despite recommendation of trochleoplasty in treatment of patellar instability in the setting of trochlear dysplasia, much is unknown about the prevalence of trochlear dysplasia and supratrochlear spurs in the general population. The purpose of this study is to investigate the prevalence of supratrochlear spurs and trochlear dysplasia in the population and investigate the relationship between supratrochlear spurs and dysplastic femoral trochleae. Methods: This study was performed at the Cleveland Museum of Natural History, the Hamann Todd Human Osteological Collection. With over 4,000 complete human skeletons, the Hamann Todd osteological collection at the Cleveland Museum of Natural History is the largest collection of osteological specimens with documented demographic data in the Western Hemisphere. We evaluated femora from over 1,000 individuals aged 16-40 years. Each specimen was evaluated for the presence of trochlear dysplasia and supratrochlear spurs. We excluded skeletally immature specimens as well as specimens with visible signs of osteoarthritis or abnormal, bony deformity. The presence or absence of supratrochlear spurs was documented. Abnormal femoral trochleae were photographed in A/P, axial, and lateral views. The width and length of supratrochlear spurs were measured using digital calipers. Results: Of the 1,148 specimens studied, 135 femora from 93 individuals were found to be dysplastic. Amongst these, 9 femora with trochlear dysplasia had supratrochlear spurs. The average age of individuals with dysplastic trochleae in this study was 32.86. Of the 93 specimens identified, 24 were female (25.8%). Additionally, 52% of individuals with dysplastic trochleae were white while 48% were black. Conclusions: There may be an association of supratrochlear spurs with trochlear dysplasia. Though 25.8% of individuals with dysplastic trochleae were female, it is important to note that the Hamann Todd Collection as a whole is 19% female.

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Alanay, Yasemin, Deborah Krakow, David L. Rimoin et Ralph S. Lachman. « Angulated femurs and the skeletal dysplasias : Experience of the International Skeletal Dysplasia Registry (1988–2006) ». American Journal of Medical Genetics Part A 143A, n^o 11 (1 juin 2007) : 1159–68. http://dx.doi.org/10.1002/ajmg.a.31711.

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Nechvolodova, O. L., et L. K. Mikhailova. « On the classification of spondylometaphyseal dysplasias : spondylophysial-metaphyseal dysplasia ». N.N. Priorov Journal of Traumatology and Orthopedics 1, n^o 1 (15 mars 1994) : 43–47. http://dx.doi.org/10.17816/vto63951.

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A clinical and radiological analysis of 107 cases of hereditary systemic diseases of the skeleton with a predominant lesion of the germ (fizar) and metaphyseal zones, which are combined into the group "spondylophysial-metaphyseal dysplasia", was carried out. Changes in the skeleton were traced in dynamics, the age of the observed patients was from 1 to 16 years. Three types of spondylophysial-metaphyseal dysplasia have been identified, depending on the degree of damage to the fizar and metaphyseal zones and its predominant localization: A (with a predominant lesion of the hip joints), B (with a predominant lesion of the spine) and C (with a uniform lesion of the spine and long bones)

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Dennis, Ella P., Robyn N. Watson, Florence McPate et Michael D. Briggs. « Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3 ». International Journal of Molecular Sciences 24, n^o 2 (12 janvier 2023) : 1496. http://dx.doi.org/10.3390/ijms24021496.

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The intracellular retention of mutant cartilage matrix proteins and pathological endoplasmic reticulum (ER) stress disrupts ossification and has been identified as a shared disease mechanism in a range of skeletal dysplasias including short limbed-dwarfism, multiple epiphyseal dysplasia type 5 (EDM5). Although targeting ER stress is an attractive avenue for treatment and has proven successful in the treatment of a related skeletal dysplasia, to date no drugs have proven successful in reducing ER stress in EDM5 caused by the retention of mutant matrilin-3. Our exciting findings show that by using our established luciferase ER stress screening assay, we can identify a “natural” chemical, curcumin, which is able to reduce pathological ER stress in a cell model of EDM5 by promoting the proteasomal degradation mutant matrilin-3. Therefore, this is an important in vitro study in which we describe, for the first time, the success of a naturally occurring chemical as a potential treatment for this currently incurable rare skeletal disease. As studies show that curcumin can be used as a potential treatment for range of diseases in vitro, current research is focused on developing novel delivery strategies to enhance its bioavailability. This is an important and exciting area of research that will have significant clinical impact on a range of human diseases including the rare skeletal disease, EDM5.

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Singh, Anshul, Anil Kumar Sakalecha, Rajeswari Rajeswari et Yashas Ullas L. « Case Report Of Short Rib Polydactyly Syndrome ». JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES 09, n^o 4 (15 décembre 2019) : 122–24. http://dx.doi.org/10.58739/jcbs/v09i4.1.

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Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic and postnatal clinical, histological and radiologic findings. In this report, we pre-sent a case of SRPS type 3 (Verma-Naumoff) with thoracic hypoplasia, short limbs and postaxial polydactyly in a 30-week fetus. Keywords: Short rib polydactyly syndrome, Verma-Naumoff, Ultrasonography, Narrow thoracic cage

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Wyckoff, Myra H., Chirine El-Turk, Abbot Laptook, Charles Timmons, Francis H. Gannon, Xiafang Zhang, Steven Mumm et Michael P. Whyte. « Neonatal Lethal Osteochondrodysplasia with Low Serum Levels of Alkaline Phosphatase and Osteocalcin ». Journal of Clinical Endocrinology & ; Metabolism 90, n^o 2 (1 février 2005) : 1233–40. http://dx.doi.org/10.1210/jc.2004-0251.

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Neonatal lethal skeletal dysplasias are rare and typically involve thoracic malformations and severe limb shortening. We report on a newborn boy manifesting an osteochondrodysplasia associated with fatal respiratory insufficiency who had normal lung volumes and extremity lengths. His disorder featured aberrant skeletal patterning and defective ossification including a severely osteopenic skull, apparent absence of clavicles, and clefting of the mandible and vertebrae. Serum alkaline phosphatase and osteocalcin levels were markedly low. Biochemical studies suggested parathyroid insufficiency probably from critical illness. Histopathology at autopsy excluded impaired mineralization of skeletal matrix, but endochondral bone formation appeared disorganized with growth plate clustering of chondrocytes in hypertrophic zones and in zones of provisional calcification. Parathyroid glands were not found. Despite features of two distinctive heritable entities, hypophosphatasia and cleidocranial dysplasia, the cumulative findings did not match either condition, and no mutations were found in either the tissue nonspecific ALP isoenzyme or core-binding factor genes, respectively, or in the genes encoding osteocalcin or the osteoblast transcription factor osterix. This patient could represent the extreme of cleidocranial dysplasia (a disorder not always associated with structural mutation in core-binding factor A1), but more likely he defines a unique osteochondrodysplasia disrupting both intramembranous and endochondral bone formation.

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Gowri, V., et R. Jain. « Congenital skeletal dysplasia ». Case Reports 2009, sep15 1 (15 septembre 2009) : bcr0120091456. http://dx.doi.org/10.1136/bcr.01.2009.1456.

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Agrawal, Priti, Rishi Agrawal et Anandi Lobo. « Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality : a case report ». International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, n^o 3 (24 février 2021) : 1232. http://dx.doi.org/10.18203/2320-1770.ijrcog20210772.

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Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”. Children with this condition are usually stillborn or die shortly after birth from respiratory failure. We report a case of LSD (Thanatophoric dysplasia), in an unbooked patient where previous two children and couple were absolutely normal. Our patient, 31 years old, unbooked case presented with history of amenorrhea 8 months and unable to perceive fetal movements. Her husband’s age was 33 years. This was her third pregnancy. She had previous 2 deliveries by LSCS. Ultrasonography revealed single intrauterine live fetus in breech presentation with multiple fetal anomalies. There was shortening and deformity of all four limbs (micromelia) with poor mineralization of all bones. Thorax was pear shaped with short horizontal ribs and abnormal cardiothoracic ratio. LSCS was done in emergency for impending rupture of previous LSCS scar. Post-delivery examination and X-ray of the fetus revealed decreased skull mineralization, frontal bossing, hypoplastic nasal bone, midface hypoplasia, mandibular hypoplasia, pear shaped chest, protuberant abdomen, micromelia, dumbbell shaped appearance of all long bones. TD is caused due to mutation of the fibroblast growth factor receptor 3 gene (FGFR3), which is located on the short arm of chromosome 4. Type I TD is characterized by marked underdeveloped skeleton and short-curved long bones. Conventional radiographic examination remains the most useful means of studying the dysplastic skeleton. Bony evaluation is best done on X-rays or ultrasonography. The diagnosis of TD can be established with ultrasound and molecular confirmation in the second trimester can help in genetic counselling and termination of such lethal pregnancies. LSD’s are rare event. If our patient had undergone anomaly scan in second trimester of pregnancy, this defect could have been detected earlier. The outcome of fetus is lethal but maternal morbidity can be reduced if diagnosed early.

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