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Am J Med Genet ; 87(5): 430-3, 1999 Dec 22.
Article in English | MEDLINE | ID: mdl-10594883

ABSTRACT

We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.


Subject(s)
Clubfoot/genetics , Dysostoses/genetics , Hand Deformities, Congenital/genetics , Jaw Abnormalities/genetics , Mandible/abnormalities , Consanguinity , Dysostoses/diagnostic imaging , Facies , Hand Deformities, Congenital/diagnostic imaging , Humans , Infant , Jaw Abnormalities/diagnostic imaging , Male , Mandible/diagnostic imaging , Tomography, X-Ray Computed
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