Journal articles: 'Craniofacial abnormalities'

1

Elmsie, Frances V., and William Reardon. "Craniofacial developmental abnormalities." Current Opinion in Neurology 11, no. 2 (April 1998): 103–8. http://dx.doi.org/10.1097/00019052-199804000-00004.

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S, Jeelani. "Craniofacial Abnormalities and Syndromes." Journal of Scientific Dentistry 4, no. 2 (2014): 56–61. http://dx.doi.org/10.5005/jsd-4-2-56.

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Woolley, Emma J., David Richardson, and Paul May. "Management of craniofacial abnormalities." British Journal of Hospital Medicine 66, no. 7 (July 2005): 405–10. http://dx.doi.org/10.12968/hmed.2005.66.7.18385.

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Kleintjes, Wayne George. "Craniofacial Abnormalities in Twins at Tygerberg Hospital, Craniofacial Unit." Journal of Craniofacial Surgery 16, no. 1 (January 2005): 169–71. http://dx.doi.org/10.1097/00001665-200501000-00035.

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Witsell, David L., John E. Buenting, and Amelia F. Drake. "AIRWAY ABNORMALITIES IN CRANIOFACIAL SYNDROMES." Oral and Maxillofacial Surgery Clinics of North America 7, no. 2 (May 1995): 337–44. http://dx.doi.org/10.1016/s1042-3699(20)30830-x.

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Mak, Annisa Shui Lam, and Kwok Yin Leung. "Prenatal ultrasonography of craniofacial abnormalities." Ultrasonography 38, no. 1 (January 1, 2019): 13–24. http://dx.doi.org/10.14366/usg.18031.

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Johnston, M. C. "Abnormalities of craniofacial development: discussion report." Development 103, Supplement (September 1, 1988): 241–43. http://dx.doi.org/10.1242/dev.103.supplement.241.

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The following topics arose as major areas of discussion after individual papers and in the general discussion at the end of the session. Discussion from both sources has been merged here to facilitate easier reading. Comments focussed primarily on the differential teratogenicity of the various retinoids used experimentally and on the dose levels concerned. Dr Johnston raised the issue of retinoid blood levels following application of retinol to embryos. Studies by Kochhar in the seventies using radiolabelled retinol showed that the blood levels went up to a high peak following administration and then came down a certain extent and levelled off because of retinol coming out of the fat in the liver where it had been stored (Kochar, 1977). In more recent studies in Newcastle, UK, Vitamin A apparently seemed to concentrate within the cartilages. Different retinoids have been used in the various experimental studies making comparisons difficult sometimes.

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Rothschild, Michael A. "Craniofacial abnormalities and upper airway obstruction." Current Opinion in Otolaryngology & Head and Neck Surgery 3, no. 1 (December 1995): 396–401. http://dx.doi.org/10.1097/00020840-199512000-00010.

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Panthaki, Zubin J., and Milton B. Armstrong. "Hand Abnormalities Associated With Craniofacial Syndromes." Journal of Craniofacial Surgery 14, no. 5 (September 2003): 709–12. http://dx.doi.org/10.1097/00001665-200309000-00020.

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Ma, Yu, Yali Xu, Yanli Zhang, and Xiaohong Duan. "Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis." International Journal of Molecular Sciences 24, no. 12 (June 20, 2023): 10412. http://dx.doi.org/10.3390/ijms241210412.

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Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.

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Ullrich, N. J., V. M. Silvera, S. E. Campbell, and L. B. Gordon. "Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome." American Journal of Neuroradiology 33, no. 8 (March 29, 2012): 1512–18. http://dx.doi.org/10.3174/ajnr.a3088.

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Rosa, Rafael Fabiano M., Rosana Cardoso M. Rosa, Marina Boff Lorenzen, Paulo Ricardo G. Zen, Carla Graziadio, and Giorgio Adriano Paskulin. "Craniofacial abnormalities among patients with Edwards Syndrome." Revista Paulista de Pediatria 31, no. 3 (September 2013): 293–98. http://dx.doi.org/10.1590/s0103-05822013000300004.

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OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

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Nargozian, Charles. "The airway in patients with craniofacial abnormalities." Pediatric Anesthesia 14, no. 1 (January 2004): 53–59. http://dx.doi.org/10.1046/j.1460-9592.2003.01200.x.

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Leask, Megan, Catherine Carleton, Bryony Leeke, Trent Newman, Joseph Antoun, Mauro Farella, and Julia Horsfield. "Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish." Antioxidants 10, no. 12 (December 8, 2021): 1964. http://dx.doi.org/10.3390/antiox10121964.

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Craniofacial abnormalities are a common group of congenital developmental disorders that can require intensive oral surgery as part of their treatment. Neural crest cells (NCCs) contribute to the facial structures; however, they are extremely sensitive to high levels of oxidative stress, which result in craniofacial abnormalities under perturbed developmental environments. The oxidative stress-inducing compound auranofin (AFN) disrupts craniofacial development in wildtype zebrafish embryos. Here, we tested whether the antioxidant Riboceine (RBC) rescues craniofacial defects arising from exposure to AFN. RBC rescued AFN-induced cellular apoptosis and distinct defects of the cranial cartilage in zebrafish larvae. Zebrafish embryos exposed to AFN have higher expression of antioxidant genes gstp1 and prxd1, with RBC treatment partially rescuing these gene expression profiles. Our data suggest that antioxidants may have utility in preventing defects in the craniofacial cartilage owing to environmental or genetic risk, perhaps by enhancing cell survival.

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Calzolari, F., E. Sarti, A. Sensi, G. Garani, L. Clauser, and A. Martini. "Malformazioni dell'orecchio nelle anomalie congenite cranio-facciali." Rivista di Neuroradiologia 16, no. 3 (June 2003): 411–20. http://dx.doi.org/10.1177/197140090301600313.

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The aim of this study is to describe external, middle and inner ear malformations in children with congenital craniofacial abnormalities. Seventeen patients with craniofacial and external ear anomalies, aged between 12 days and 15 years (mean 3.4 years), were studied. The majority of children had conductive hearing loss. High-resolution CT of the petrous bone was performed in all cases; in 9 cases three-dimensional reconstructions were done. For each child CT findings of external, middle, inner ear, facial nerve and skull base were analysed. Ear malformations have been correlated with anomalies of the auricle. The most serious auricular anomalies were more frequently associated with external auditory canal atresia, dysplasia of the tympanic cavity and malleo-incudal joint and aberration of the mastoid segment of the facial nerve. These anomalies are probably related through a common embryological origin. Inner ear malformations were diagnosed more rarely, but we emphasize that these malformations are more frequent in “syndromic” forms with craniofacial abnormalities rather than in isolated anomalies of the auricle; it is very important because inner ear abnormalities are considered a contraindication to functional surgery in patients with atresia. Diagnostic imaging is useful for an early and complete characterization of the craniofacial and ear malformations; a precise analysis of the ear abnormalities is necessary to give an indication for the eventual audiological treatment. High-resolution CT is the method of choice for the analysis of the external and middle ear; CT and MR should be integrated for the study of the inner ear and facial nerve. CT and MR are helpful to determine the extent of craniofacial abnormalities; MR should be done when encephalic malformations are suspected. Finally, three-dimensional CT is useful for the maxillofacial surgeon to plan surgical treatment.

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Vaja, Hariom, Shubham Nayankumar Patel, Abhishek Vadher, Masum Patel, Megh Bhaveshkumar Patel, and Jaimin Shah. "A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition – A case report." Surgical Neurology International 14 (December 8, 2023): 422. http://dx.doi.org/10.25259/sni_424_2023.

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Background: Crouzon syndrome is a rare genetic disorder characterized by premature fusion of skull sutures during skull development, resulting in various craniofacial abnormalities and complex craniosynostosis is a condition in which more than one such sutures of the skull fuse prematurely. Case Description: Herein, we present a case of a 5-year-old male diagnosed with Crouzon-like syndrome and complex craniosynostosis involving multiple cranial sutures, including metopic, sagittal, coronal (right and left), and lambdoid sutures, and without any identifiable mutations on karyotyping. The patient underwent successful surgical intervention with a satisfactory outcome, highlighting the importance of early diagnosis and intervention to prevent or minimize associated neurological manifestations and craniofacial abnormalities. Conclusion: Our case report underscores the involvement of multiple cranial sutures in complex craniosynostosis and the absence of identifiable mutations or family history of similar craniofacial abnormalities, providing important insights into the diagnosis and management of this condition.

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Kurosaka, Hiroshi. "The Roles of Hedgehog Signaling in Upper Lip Formation." BioMed Research International 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/901041.

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Craniofacial development consists of a highly complex sequence of the orchestrated growth and fusion of facial processes. It is also known that craniofacial abnormalities can be detected in 1/3 of all patients with congenital diseases. Within the various craniofacial abnormalities, orofacial clefting is one of the most common phenotypic outcomes associated with retarded facial growth or fusion. Cleft lip is one of the representative and frequently encountered conditions in the spectrum of orofacial clefting. Despite various mechanisms or signaling pathways that have been proposed to be the cause of cleft lip, a detailed mechanism that bridges individual signaling pathways to the cleft lip is still elusive.Shhsignaling is indispensable for normal embryonic development, and disruption can result in a wide spectrum of craniofacial disorders, including cleft lip. This review focuses on the current knowledge about the mechanisms of facial development and the etiology of cleft lip that are related toShhsignaling.

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Neuhauss, S. C., L. Solnica-Krezel, A. F. Schier, F. Zwartkruis, D. L. Stemple, J. Malicki, S. Abdelilah, D. Y. Stainier, and W. Driever. "Mutations affecting craniofacial development in zebrafish." Development 123, no. 1 (December 1, 1996): 357–67. http://dx.doi.org/10.1242/dev.123.1.357.

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In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further, the expression of marker genes was studied to investigate potential abnormalities in mutant rhombencephalon, neural crest, and pharyngeal endoderm. The results suggest that the identified mutations affect three distinct aspects of craniofacial development. In one group, mutations affect the overall pattern of the craniofacial skeleton, suggesting that the genes are involved in the specification of these elements. Another large group of mutations affects differentiation and morphogenesis of cartilage, and may provide insight into the genetic control of chondrogenesis. The last group of mutations leads to the abnormal arrangement of skeletal elements and may uncover important tissue-tissue interactions underlying jaw development.

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Tsao, Allison L., and C. John Sperati. "Cystic Kidneys in a Patient with Craniofacial Abnormalities." Kidney360 1, no. 8 (August 27, 2020): 882–83. http://dx.doi.org/10.34067/kid.0001332020.

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Lies, Shelby, Terri Beckwith, Janith Mills, Lesley Butler, Marybeth Ezaki, and Scott Oishi. "Case series: Amniotic band sequence with craniofacial abnormalities." Birth Defects Research 111, no. 19 (August 13, 2019): 1494–500. http://dx.doi.org/10.1002/bdr2.1576.

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Okpala, Boniface Chukwuneme, Sylvia Tochukwu Echendu, Joseph Ifeanyichukwu Ikechebelu, George Uchenna Eleje, Ngozi Nneka Joe-Ikechebelu, Louis Anayo Nwajiaku, Cyril Emeka Nwachukwu, et al. "Roberts syndrome with tetraphocomelia: A case report and literature review." SAGE Open Medical Case Reports 10 (January 2022): 2050313X2210940. http://dx.doi.org/10.1177/2050313x221094077.

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Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the “Establishment of cohesion 1 homolog 2” genes, resulting in the loss of acetyltransferase activities and manifesting as premature centromere separation in metaphase chromosomes. The affected individual grows slowly during pregnancy and after birth with associated mild to severe intellectual impairment. We present a 35-year-old multiparous Nigerian lady who had emergency cesarean section at 35 weeks of gestation following abruptio placentae with a live fetus. The baby had poor Apgar score at birth and died shortly afterward. Tetraphocomelia was detected on prenatal ultrasound done at about 24 weeks of gestation with other features sonographically normal. However, clinical diagnosis of severe variant of Roberts syndrome with tetraphocomelia, growth restriction, and craniofacial abnormalities were noted at birth. This case exhibits a very rare variant of Roberts syndrome with tetraphocomelia, intrauterine growth restriction, and craniofacial abnormalities. It also highlights the crucial role of detailed clinical examination and the inherent challenges in making cytogenetic diagnosis in low-income countries.

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Albuquerque, Marco Antônio Portela, and Marcelo Gusmão Paraíso Cavalcanti. "Computed tomography assessment of Apert syndrome." Brazilian Oral Research 18, no. 1 (March 2004): 35–39. http://dx.doi.org/10.1590/s1806-83242004000100007.

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Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

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Napoli, Joseph A., Carrie E. Zimmerman, and Linda D. Vallino. "Distraction Osteogenesis in the Treatment of Craniofacial Anomalies: Applications and Outcomes." Perspectives of the ASHA Special Interest Groups 5, no. 6 (December 17, 2020): 1469–81. http://dx.doi.org/10.1044/2020_persp-20-00055.

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Purpose Craniofacial anomalies (CFA) often result in growth abnormalities of the facial skeleton adversely affecting function and appearance. The functional problems caused by the structural anomalies include upper airway obstruction, speech abnormalities, feeding difficulty, hearing deficits, dental/occlusal defects, and cognitive and psychosocial impairment. Managing disorders of the craniofacial skeleton has been improved by the technique known as distraction osteogenesis (DO). In DO, new bone growth is stimulated allowing bones to be lengthened without need for bone graft. The purpose of this clinical focus article is to describe the technique and clinical applications and outcomes of DO in CFA. Conclusion Distraction can be applied to various regions of the craniofacial skeleton to correct structure and function. The benefits of this procedure include improved airway, feeding, occlusion, speech, and appearance, resulting in a better quality of life for patients with CFA.

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Curran, Aongus J., T. P. O'Dwyer, and Alexander Blayney. "Emergency tracheostomy in a patient with Melnick-Needles Syndrome and sleep apnoea." Journal of Laryngology & Otology 107, no. 7 (July 1993): 647–48. http://dx.doi.org/10.1017/s0022215100123989.

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A six-year-old girl with a rare bone dysplasia (Melnick-Needles Syndrome) presented with a five month history of severe sleep apnoea, weight loss and failure of thrive. The syndrome is associated with craniofacial abnormalities, including micrognathia. Following a multi-disciplinary assessment an elective tracheostomy was considered the most appropriate treatment. The patient developed severe respiratory distress 10 days prior to the arranged date of surgery and required an emergency tracheostomy. This resulted in a dramatic return to health. The recognition of severe sleep apnoea in patients with craniofacial abnormalities and the role of initial tracheostomy are discussed.

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Kubik-Zahorodna, Agnieszka, B. Schuster, I. Kanchev, and Radislav Sedláček. "Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia." Folia Biologica 62, no. 4 (2016): 139–47. http://dx.doi.org/10.14712/fb2016062040139.

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Diamond-Blackfan anaemia is a rare disease caused by insufficient expression of ribosomal proteins and is characterized by erythroid hypoplasia often accompanied by growth retardation, congenital craniofacial and limb abnormalities. In addition, Diamond-Blackfan anaemia patients also exhibit a number of behavioural abnormalities. In this study we describe the behavioural effects observed in a new mouse mutant carrying a targeted single amino acid deletion in the ribosomal protein RPS19. This mutant, created by the deletion of arginine 67 in RPS19, exhibits craniofacial, skeletal, and brain abnormalities, accompanied by various neurobehavioural malfunctions. A battery of behavioural tests revealed a moderate cognitive impairment and neuromuscular dysfunction resulting in profound gait abnormalities. This novel Rps19 mutant shows behavioural phenotypes resembling that of the human Diamond-Blackfan anaemia syndrome, thus creating the possibility to use this mutant as a unique murine model for studying the molecular basis of ribosomal protein deficiencies.

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Perez, Isaiah, Nayeli Reyes-Nava, Briana Pinales, and Anita Quintana. "Overexpression of MMACHC Prevents Craniofacial Phenotypes Caused by Knockdown of znf143b." American Journal of Undergraduate Research 20, no. 1 (June 30, 2023): 77–84. http://dx.doi.org/10.33697/ajur.2023.081.

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ZNF143 is a sequence-specific DNA binding protein that regulates the expression of protein-coding genes and small RNA molecules. In humans, ZNF143 interacts with HCFC1, a transcriptional cofactor, to regulate the expression of downstream target genes, including MMACHC, which encodes an enzyme involved in cobalamin (cbl) metabolism. Mutations in HCFC1 or ZNF143 cause an inborn error of cobalamin metabolism characterized by abnormal cbl metabolism, intellectual disability, seizures, and mild to moderate craniofacial abnormalities. However, the mechanisms by which ZNF143 mutations cause individual phenotypes are not completely understood. Defects in metabolism and craniofacial development are hypothesized to occur because of decreased expression of MMACHC. But recent results have called into question this mechanism as the cause for craniofacial development. Therefore, in the present study, we implemented a loss of function analysis to begin to uncover the function of ZNF143 in craniofacial development using the developing zebrafish. The knockdown of znf143b, one zebrafish ortholog of ZNF143, caused craniofacial phenotypes of varied severity, which included a shortened and cleaved Meckel’s cartilage, partial loss of ceratobranchial arches, and a distorted ceratohyal. These phenotypes did not result from a defect in the number of total chondrocytes but were associated with a mild to moderate decrease in mmachc expression. Interestingly, expression of human MMACHC via endogenous transgene prevented the onset of craniofacial phenotypes associated with znf143b knockdown. Collectively, our data establishes that knockdown of znf143b causes craniofacial phenotypes that can be alleviated by increased expression of MMACHC. KEYWORDS: ZNF143; MMACHC; Vertebrate abnormalities; Cobalamin; cblX-like syndrome; Chondrocytes; Neural crest cells; Hyosymplectic

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Kummer, Ann W., and Linda Lee. "Evaluation and Treatment of Resonance Disorders." Language, Speech, and Hearing Services in Schools 27, no. 3 (July 1996): 271–81. http://dx.doi.org/10.1044/0161-1461.2703.271.

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Resonance disorders can be caused by a variety of structural abnormalities in the resonating chambers for speech, or by velopharyngeal dysfunction. These abnormalities may result in hypernasality, hypo- or denasality, or cul-de-sac resonance. Resonance disorders are commonly seen in patients with craniofacial anomalies, particularly a history of cleft palate. The appropriate evaluation of a resonance disorder includes a speech pathology evaluation, and may require a video-fluoroscopic speech study or nasopharyngoscopy assessment. Treatment may include surgery or the use of prosthetic devices, and usually speech therapy. Given the complexity of these disorders in regard to evaluation and treatment, the patient is best served by an interdisciplinary craniofacial anomaly team.

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Kantaputra, Piranit N., Preecha Chalidapong, and Pannee Visrutaratna. "Digitotalar dysmorphism with craniofacial and other new associated abnormalities." Clinical Dysmorphology 10, no. 3 (July 2001): 171–75. http://dx.doi.org/10.1097/00019605-200107000-00003.

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Poole, Andrew E., and Deborah A. Redford-Badwal. "Structural Abnormalities of the Craniofacial Complex and Congenital Malformations." Pediatric Clinics of North America 38, no. 5 (October 1991): 1089–125. http://dx.doi.org/10.1016/s0031-3955(16)38190-1.

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de Mendonça, Jeferson Cedaro, and Ivo Bussoloti Filho. "Craniofacial pain and anatomical abnormalities of the nasal cavities." Brazilian Journal of Otorhinolaryngology 71, no. 4 (July 2005): 526–34. http://dx.doi.org/10.1016/s1808-8694(15)31211-8.

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Laclef, Christine, Evelyne Souil, Josiane Demignon, and Pascal Maire. "Thymus, kidney and craniofacial abnormalities in Six1 deficient mice." Mechanisms of Development 120, no. 6 (June 2003): 669–79. http://dx.doi.org/10.1016/s0925-4773(03)00065-0.

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CISTULLI, Peter A. "Craniofacial abnormalities in obstructive sleep apnoea: Implications for treatment." Respirology 1, no. 3 (September 1996): 167–74. http://dx.doi.org/10.1111/j.1440-1843.1996.tb00028.x.

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Watanabe, Hideto, and Yoshihiko Yamada. "Mice lacking link protein develop dwarfism and craniofacial abnormalities." Nature Genetics 21, no. 2 (February 1999): 225–29. http://dx.doi.org/10.1038/6016.

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Jhamb, Tania, Hayat Masood, Jeffrey Arigo, and P. Emile Rossouw. "Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature." Cleft Palate-Craniofacial Journal 56, no. 10 (June 18, 2019): 1393–403. http://dx.doi.org/10.1177/1055665619854617.

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Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These craniofacial abnormalities include cleft palate, midface anomalies, tracheomalacia, and hearing loss. This article illustrates a case of Kniest dysplasia that presented for orthodontic treatment. The purpose of this literature review is to describe clinical manifestations, radiographic features, histopathological features, genetic mutation, and management of Kniest dysplasia.

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Gans, Carl. "Craniofacial growth, evolutionary questions." Development 103, Supplement (September 1, 1988): 3–15. http://dx.doi.org/10.1242/dev.103.supplement.3.

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Understanding the growth of craniofacial systems in mammals, particularly in man, has always posed problems. Such craniofacial systems are formed ontogenetically of multiple tissue types, and the contributions of these tissues do not obviously match the divisions of adult skeletal elements (see Thorogood, this volume). Even the kind and number of segments in the head region continue to attract attention (Maderson, 1987). Furthermore, craniofacial systems appear to show trends toward an unusual number of developmental abnormalities or teratologies. Many of these teratologies suggest that we are not looking at a simple coordinated whole (Salinas, 1982; Shprintzen, 1982); rather, it seems as if multiple cranial and facial components incur differential growth either symmetrically or asymmetrically. It seems instructive to treat the basis of this curious array of complications from an evolutionary viewpoint, considering two aspects, adaptation and history.

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Tuyishimire, B., H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, and L. Mutesa. "Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling." Rwanda Medical Journal 79, no. 4 (December 31, 2022): 9–12. http://dx.doi.org/10.4314/rmj.v79i4.10.

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INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions. Thus, this work aims at highlighting this syndrome's clinical features for raising medical awareness. CLINICAL CASE: We reviewed a 1-year-old patient referred to our clinical genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe craniofacial abnormalities, including downward-sloping eyes, slight notching of the lower lids, small and underdeveloped eyebrow bones, vision problems, small outer ears, small and underdeveloped cheekbones, and jaw. Within the limits of the techniques used in our laboratory, the cytogenetic analysis revealed a normal karyotype, 46, XY. CONCLUSION: The patient was diagnosed with Treacher-Collins syndrome based on clinical manifestations of craniofacial features. Nevertheless, laboratory tests performed were limited to karyotyping and should not detect any gene defect. Long-term follow-up of the patient and his family was recommended. Further molecular analyses should be performed to identify causing genetic mutation mainly in the TCOF1, POLR1C, or POLR1D genes.

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Bernath, Megan M., Sunu Mathew, and Jerry Kovoor. "Craniofacial Trauma and Vascular Injury." Seminars in Interventional Radiology 38, no. 01 (March 2021): 045–52. http://dx.doi.org/10.1055/s-0041-1724012.

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AbstractCerebrovascular injury is a potentially devastating outcome following craniofacial trauma. Interventional radiologists play an important role in detecting, grading, and treating the different types of vascular injury. Computed tomography angiography plays a significant role in the detection of these injuries. Carotid-cavernous fistulas, extra-axial hematomas, pseudoaneurysms, and arterial lacerations are rare vessel injuries resulting from craniofacial trauma. If left untreated, these injuries can lead to vessel rupture and hemorrhage into surrounding areas. Acute management of these vessel injuries includes early identification with angiography and treatment with endovascular embolization. Endovascular therapy resolves vessel abnormalities and reduces the risk of vessel rupture and associated complications.

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Maldonado, Estela, Elena Martínez-Sanz, Teresa Partearroyo, Gregorio Varela-Moreiras, and Juliana Pérez-Miguelsanz. "Maternal Folic Acid Deficiency Is Associated to Developing Nasal and Palate Malformations in Mice." Nutrients 13, no. 1 (January 16, 2021): 251. http://dx.doi.org/10.3390/nu13010251.

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Craniofacial development requires extremely fine-tuned developmental coordination of multiple specialized tissues. It has been evidenced that a folate deficiency (vitamin B9), or its synthetic form, folic acid (FA), in maternal diet could trigger multiple craniofacial malformations as oral clefts, tongue, or mandible abnormalities. In this study, a folic acid-deficient (FAD) diet was administered to eight-week-old C57/BL/6J female mouse for 2–16 weeks. The head symmetry, palate and nasal region were studied in 24 control and 260 experimental fetuses. Our results showed a significant reduction in the mean number of fetuses per litter according to maternal weeks on FAD diet (p < 0.01). Fetuses were affected by cleft palate (3.8%) as well as other severe congenital abnormalities, for the first time related to maternal FAD diet, as head asymmetries (4.6%), high arched palate (3.5%), nasal septum malformed (7.3%), nasopharynx duct shape (15%), and cilia and epithelium abnormalities (11.2% and 5.8%). Dysmorphologies of the nasal region were the most frequent, appearing at just four weeks following a maternal FAD diet. This is the first time that nasal region development is experimentally related to this vitamin deficiency. In conclusion, our report offers novel discoveries about the importance of maternal folate intake on midface craniofacial development of the embryos. Moreover, the longer the deficit lasts, the more serious the consequent effects appear to be.

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Tavares, Andre L. P., and Sally A. Moody. "Advances in Understanding the Pathogenesis of Craniofacial Birth Defects." Journal of Developmental Biology 10, no. 3 (July 1, 2022): 27. http://dx.doi.org/10.3390/jdb10030027.

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Cohen Jr, M. Michael. "Craniofacial Anomalies: Clinical and Molecular Perspectives." Annals of the Academy of Medicine, Singapore 32, no. 2 (March 15, 2003): 244–51. http://dx.doi.org/10.47102/annals-acadmedsg.v32n2p244.

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The first three disorders discussed are abnormalities of bone: too little bone in cleidocranial dysplasia caused by mutations in RUNX2; too much bone in fibrodysplasia ossificans progressiva with overexpression of BMP4; and abnormal bone in McCune-Albright syndrome and fibrous dysplasia caused by mutations in GNAS1. Disorders of the sonic hedgehog signaling network are discussed next, including holoprosencephaly and the nevoid basal cell carcinoma syndrome, the former being caused by sonic hedgehog (SHH) mutations and the latter being caused by patched mutations (PTCH).

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Costa, André de Mendonça, Gerson Shigeru Kobayashi, Daniela Franco Bueno, Marília Trierveiler Martins, Marcus de Castro Ferreira, Maria Rita Passos-Bueno, and Nivaldo Alonso. "An experimental model for the study of craniofacial deformities." Acta Cirurgica Brasileira 25, no. 3 (June 2010): 264–68. http://dx.doi.org/10.1590/s0102-86502010000300008.

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PURPOSE: To develop an experimental surgical model in rats for the study of craniofacial abnormalities. METHODS: Full thickness calvarial defects with 10x10-mm and 5x8-mm dimensions were created in 40 male NIS Wistar rats, body weight ranging from 320 to 420 g. The animals were equally divided into two groups. The periosteum was removed and dura mater was left intact. Animals were killed at 8 and 16 weeks postoperatively and cranial tissue samples were taken from the defects for histological analysis. RESULTS: Cranial defects remained open even after 16 weeks postoperatively. CONCLUSION: The experimental model with 5x8-mm defects in the parietal region with the removal of the periosteum and maintenance of the integrity of the dura mater are critical and might be used for the study of cranial bone defects in craniofacial abnormalities.

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Moore, Emily R. "Primary Cilia: The New Face of Craniofacial Research." Biomolecules 12, no. 12 (November 22, 2022): 1724. http://dx.doi.org/10.3390/biom12121724.

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The primary cilium is a solitary, sensory organelle that extends from the surface of nearly every vertebrate cell, including craniofacial cells. This organelle converts chemical and physical external stimuli into intracellular signaling cascades and mediates several well-known signaling pathways simultaneously. Thus, the primary cilium is considered a cellular signaling nexus and amplifier. Primary cilia dysfunction directly results in a collection of diseases and syndromes that typically affect multiple organ systems, including the face and teeth. Despite this direct connection, primary cilia are largely unexplored in craniofacial research. In this review, I briefly summarize craniofacial abnormalities tied to the primary cilium and examine the existing information on primary cilia in craniofacial development and repair. I close with a discussion on preliminary studies that motivate future areas of exploration that are further supported by studies performed in long bone and kidney cells.

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Begum, Mohammadi, Navya Muttineni, and Arjun Karra. "The genetic basis of craniofacial abnormalities - mechanisms involved: A review." International Dental & Medical Journal of Advanced Research - VOLUME 2015 1, no. 1 (2015): 1–3. http://dx.doi.org/10.15713/ins.idmjar.24.

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Lecanda, Fernando, Pamela M. Warlow, Sharmin Sheikh, Federico Furlan, Thomas H. Steinberg, and Roberto Civitelli. "Connexin43 Deficiency Causes Delayed Ossification, Craniofacial Abnormalities, and Osteoblast Dysfunction." Journal of Cell Biology 151, no. 4 (November 13, 2000): 931–44. http://dx.doi.org/10.1083/jcb.151.4.931.

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Connexin(Cx)43 is the major gap junction protein present in osteoblasts. We have shown that overexpression of Cx45 in osteoblasts expressing endogenous Cx43 leads to decreased cell–cell communication (Koval, M., S.T. Geist, E.M. Westphale, A.E. Kemendy, R. Civitelli, E.C. Beyer, and T.H. Steinberg. 1995. J. Cell Biol. 130:987–995) and transcriptional downregulation of several osteoblastic differentiation markers (Lecanda, F., D.A. Towler, K. Ziambaras, S.-L. Cheng, M. Koval, T.H. Steinberg, and R. Civitelli. 1998. Mol. Biol. Cell 9:2249–2258). Here, using the Cx43-null mouse model, we determined whether genetic deficiency of Cx43 affects skeletal development in vivo. Both intramembranous and endochondral ossification of the cranial vault were delayed in the mutant embryos, and cranial bones originating from migratory neural crest cells were also hypoplastic, leaving an open foramen at birth. Cx43-deficient animals also exhibited retarded ossification of the clavicles, ribs, vertebrae, and limbs, demonstrating that skeletal abnormalities are not restricted to a neural crest defect. However, the axial and appendicular skeleton of Cx43-null animals were essentially normal at birth. Cell to cell diffusion of calcein was poor among Cx43-deficient osteoblasts, whose differentiated phenotypic profile and mineralization potential were greatly impaired, compared with wild-type cells. Therefore, in addition to the reported neural crest cell defect, lack of Cx43 also causes a generalized osteoblast dysfunction, leading to delayed mineralization and skull abnormalities. Cell to cell signaling, mediated by Cx43 gap junctions, was critical for normal osteogenesis, craniofacial development, and osteoblastic function.

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Gruber, Robert, Anna Sarah Schossig, Kholood A. Alnutaifi, Verena Martinz, Stefan Blunder, Johannes Zschocke, Matthias Schmuth, and Sigrid Tinschert. "Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11, no. 10 (May 13, 2013): 1023–25. http://dx.doi.org/10.1111/ddg.12116.

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Melookaran, Ann M., Sirisha A. Rao, Sible B. Antony, and Adriana Herrera. "Anesthesia for Children With Craniofacial Abnormalities in the Developing Countries." Journal of Craniofacial Surgery 26, no. 4 (June 2015): 1069–72. http://dx.doi.org/10.1097/scs.0000000000001674.

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Whiting, Jenny. "Craniofacial abnormalities induced by the ectopic expression of homeobox genes." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 396, no. 1-2 (December 1997): 97–112. http://dx.doi.org/10.1016/s0027-5107(97)00177-2.

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van Boxtel, Antonius Leonardus, Bart Pieterse, Peter Cenijn, Jorke Harmen Kamstra, Abraham Brouwer, Wessel van Wieringen, Jacob de Boer, and Juliette Legler. "Dithiocarbamates Induce Craniofacial Abnormalities and Downregulate sox9a during Zebrafish Development." Toxicological Sciences 117, no. 1 (June 7, 2010): 209–17. http://dx.doi.org/10.1093/toxsci/kfq169.

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Lonsdale, Sarah, Robin Yong, Alexander Khominsky, Suzanna Mihailidis, Grant Townsend, Sarbin Ranjitkar, and Peter J. Anderson. "Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome." Annals of Anatomy - Anatomischer Anzeiger 225 (September 2019): 33–41. http://dx.doi.org/10.1016/j.aanat.2019.05.011.

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Nicot, R., C. Druelle, E. Hurteloup, and J. ‐M Levaillant. "Prenatal craniofacial abnormalities: from ultrasonography to three‐dimensional printed models." Ultrasound in Obstetrics & Gynecology 54, no. 6 (December 2019): 835–36. http://dx.doi.org/10.1002/uog.20242.

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Journal articles on the topic 'Craniofacial abnormalities'

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