The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.Am J Med Genet. 1999 Dec 22; 87(5):430-3.AJ
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.