Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
- 1 December 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (3) , 330-332
- https://doi.org/10.1002/ajmg.1320410314
Abstract
We report on a Brazilian woman with mandibulofacial dysostosis, cleft lip/palate, vertebral anomalies, abnormally modeled femora, and bilateral tibial agenesis. The clinical aspects involving this patient strongly suggest an unreported condition. Clinical and genetic aspects are discussed.Keywords
This publication has 12 references indexed in Scilit:
- Atypical postaxial acrofacial dysostosis (AFD): Diabetic embryopathy or a new AFD syndrome?American Journal of Medical Genetics, 1989
- Postaxial acrofacial dysostosis: Report of a Brazilian patientAmerican Journal of Medical Genetics, 1989
- Acrofacial dysostosesAmerican Journal of Medical Genetics, 1989
- Tibial aplasia‐ectrodactyly as variant expression of the Gollop‐Wolfgang complex: Report of a Brazilian familyAmerican Journal of Medical Genetics, 1987
- Tibial hemimelia‐cleft lip/palate in a Brazilan child born to consanguineous parentsAmerican Journal of Medical Genetics, 1987
- Tibial hemimelia: Report on 37 new cases, clinical and genetic considerationsAmerican Journal of Medical Genetics, 1987
- Acrofacial dysostosis with severe facial clefting and limb reductionAmerican Journal of Medical Genetics, 1984
- Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a brazilian familyAmerican Journal of Medical Genetics, 1983
- Malformations in infants of diabetic mothersAmerican Journal of Medical Genetics, 1982
- Congenital MalformationsAmerican Journal of Diseases of Children, 1975