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

✍ Scribed by Walter-Nicolet, Elisabeth; Co�slier, Anne; Joriot, Sylvie; Kacet, Nadine; Moerman, Alexandre; Manouvrier-Hanu, Sylvie


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
28 KB
Volume
87
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9

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✦ Synopsis


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-


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