The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant

Authors
Walter-Nicolet, E Coeslier, A Joriot, S Kacet, N Moerman, A Manouvrier-Hanu, S
Citation
E. Walter-nicolet et al., The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant, AM J MED G, 87(5), 1999, pp. 430-433
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
87
Issue
5
Year of publication
1999
Pages
430 - 433
Database
ISI
SICI code
0148-7299(199912)87:5<430:TRAPFO>2.0.ZU;2-H
Abstract
We report on a French boy with cleft mandible, pre/postaxial hand anomalies , and clubfoot born to consanguineous parents. These findings are comparabl e to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/post axial hand anomalies, and clubfoot. This is the first case in a non-Brazili an infant. Am. J. Med. Genet. 87:430-433, 1999. (C) 1999 Wiley-Liss, Inc.