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
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.
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