Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up
| Autor: | Brent E. Finley, Timothy L. Bennett, John H. Seguin, Ward M. Newcomb, L. Levitch, Katherine S. Claflin, R. Neil Schimke |
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| Rok vydání: | 1991 |
| Předmět: |
Autosomal recessive inheritance
business.industry Hypoglossia Craniofacial Dysostosis Gingiva Infant Newborn Hypomandibular faciocranial dysostosis Neural crest Genes Recessive Anatomy Mandible Syndrome medicine.disease Craniosynostosis Trachea Craniosynostoses Neural Crest Child Preschool medicine Humans Abnormalities Multiple Female Craniofacial dysostosis business Genetics (clinical) |
| Zdroj: | American journal of medical genetics. 41(1) |
| ISSN: | 0148-7299 |
| Popis: | Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis. |
| Databáze: | OpenAIRE |
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