Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele
| Autor: | P. S. Morrison, R. J. M. Gardner, J. C. Kennedy, P. H. Fitzgerald, L. A. Faigan |
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| Rok vydání: | 1990 |
| Předmět: |
Thorax
Limb defects Distinctive facies macromolecular substances medicine Humans Abnormalities Multiple Genetics (clinical) Thoracic deformity Dysmorphic facies Leg Omphalocele business.industry Craniofacial Dysostosis musculoskeletal neural and ocular physiology Infant Newborn Syndrome Anatomy medicine.disease Limb deformity nervous system Arm Female Radiography Thoracic Craniofacial dysostosis business Hernia Umbilical |
| Zdroj: | American Journal of Medical Genetics. 36:133-136 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320360202 |
| Popis: | We describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a "new" syndrome of multiple congenital abnormalities. |
| Databáze: | OpenAIRE |
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