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Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

✍ Scribed by Lopes, Vera L�cia Gil da Silva ;Guion-Almeida, Maria Leine ;Rodini, Elaine Sbroggio de Oliveira

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
198 KB
Volume
121A
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley‐Liss, Inc.

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