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Australian Dental Journal Feb 1995A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the...
A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome. Cleft of the soft palate and unerupted multiple supernumerary teeth were present in this case. No haematological, biochemical or immunological abnormalities could be detected in the patient. Pedigree analysis showed an autosomal dominant mode of transmission of the disease. Chromosomal studies did not reveal any structural or numerical discrepancies.
Topics: Adolescent; Cleft Palate; Humans; Male; Malocclusion, Angle Class III; Mandible; Mandibulofacial Dysostosis; Maxilla; Palate, Soft; Tooth, Supernumerary; Tooth, Unerupted
PubMed: 7710415
DOI: 10.1111/j.1834-7819.1995.tb05612.x -
European Journal of Paediatric Dentistry Dec 2023Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2...
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.
Topics: Humans; Branchial Region; Mandibulofacial Dysostosis; Diagnosis, Differential; Zygoma; Peptide Elongation Factors; Ribonucleoprotein, U5 Small Nuclear
PubMed: 38015115
DOI: 10.23804/ejpd.2023.24.04.03 -
The Journal of Pediatrics Nov 1963
Review
Topics: Congenital Abnormalities; Diagnosis, Differential; Ear Deformities, Acquired; Ear, External; Goldenhar Syndrome; Humans; Mandible; Mandibulofacial Dysostosis; Ophthalmology; Spinal Diseases
PubMed: 14071056
DOI: 10.1016/s0022-3476(63)80233-4 -
American Journal of Ophthalmology Dec 1970
Topics: Adult; Child, Preschool; Genes, Dominant; Homocystinuria; Humans; Infant; Lens, Crystalline; Male; Mandibulofacial Dysostosis; Pedigree
PubMed: 5490623
DOI: 10.1016/0002-9394(70)92473-6 -
Prenatal Diagnosis 1984Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two...
Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.
Topics: Female; Fetoscopy; Humans; Mandibulofacial Dysostosis; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis
PubMed: 6463027
DOI: 10.1002/pd.1970040307 -
Annales de Radiologie 1960
Topics: Humans; Mandibulofacial Dysostosis; Radiography
PubMed: 13763267
DOI: No ID Found -
Dermatologische Wochenschrift Jul 1967
Topics: Cutis Laxa; Electroencephalography; Female; Fetal Diseases; Humans; Intellectual Disability; Male; Mandibulofacial Dysostosis; Methods; Paraphilic Disorders; Pregnancy; Pregnancy Complications; Wounds and Injuries
PubMed: 5601196
DOI: No ID Found -
Atlas of the Oral and Maxillofacial... Sep 2014
Review
Topics: Branchial Region; Child; Diagnosis, Differential; Ear; Female; Genetic Diseases, X-Linked; Hearing Loss; Humans; Mandibulofacial Dysostosis; Microcephaly; Neck
PubMed: 25171997
DOI: 10.1016/j.cxom.2014.04.003 -
Wiley Interdisciplinary Reviews.... May 2017Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial... (Review)
Review
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. In particular, we focus on Treacher Collins syndrome, Acrofacial Dysostosis-Cincinnati Type as well as Nager and Miller syndromes, and animal models that provide new insights into the molecular and cellular basis of these congenital syndromes. We emphasize the etiologic and pathogenetic similarities between these birth defects, specifically their unique deficiencies in global processes including ribosome biogenesis, DNA damage repair, and pre-mRNA splicing, all of which affect neural crest cell development and result in similar tissue-specific defects. WIREs Dev Biol 2017, 6:e263. doi: 10.1002/wdev.263 For further resources related to this article, please visit the WIREs website.
Topics: Animals; Humans; Mandibulofacial Dysostosis; Neural Crest; Syndrome
PubMed: 28186364
DOI: 10.1002/wdev.263 -
The Journal of Hand Surgery Apr 2015
Review
Topics: Abnormalities, Multiple; Humans; Mandibulofacial Dysostosis; Musculoskeletal Abnormalities; Phenotype; Upper Extremity Deformities, Congenital
PubMed: 25543163
DOI: 10.1016/j.jhsa.2014.10.064