Filippi syndrome: two cases with ectodermal features, expanding the phenotype
小头畸形
并指
医学
表型
外胚层发育不良
皮肤病科
解剖
儿科
遗传学
生物
基因
作者
S. Sharif,Dian Donnai
出处
期刊:Clinical Dysmorphology [Lippincott Williams & Wilkins] 日期:2004-09-13卷期号:13 (4): 221-226被引量:11
标识
DOI:10.1097/00019605-200410000-00004
摘要
We report two unrelated children with Filippi syndrome. Both show typical facial dysmorphism, syndactyly of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech. In addition both children have unusual teeth and hair. We review the literature and propose that neurological and ectodermal involvement may be under-recognised features of the syndrome.