Do you know this syndrome?

作者：Trope Beatriz Moritz^*; Salomao Jaline Noronha; Tortelly Costa Violeta Duarte; Villa Verde Renata Brandao; Barros Deiseluci Sant'anna

来源：Anais Brasileiros de Dermatologia, 2010, 85(4): 573-575.

DOI：10.1590/S0365-05962010000400027

• cleft lip
• cleft palate
• ectodermal dysplasia
• syndrome

Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome (EEC) is a rare autosomal dominant genetic disorder, with variable expression and penetrance. This congenital disorder is associated either with a mutation in chromosome 7 or with a translocation between chromosomes 7 and 9, reflected primarily in the abnormalities listed in its name. This case report describes a 35-year-old male with syndromic stigmata since birth and no cleft lip/palate. Four relatives are also affected by the condition.

• 出版日期2010-8