期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 24, 页码 3295-3301出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.32019
关键词
hypoplastic cerebellar vermis; Dandy-Walker variant; mental retardation; midface deficiency; broad nose and nasal root; grooved nasal tip; abnormal nares; ear anomalies; oligodontia; hypoplastic fingernails and toenails; autosomal recessive inheritance
Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings include occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental deficiency, prominent forehead, midface deficiency, broad nose and nasal root, grooved nasal tip, abnormal nares, narrow malformed ears, severe oligodontia, and large wide feet with a gap between the hallux and the second toe. The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance. (c) 2007 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据