颅面异常、胼胝体发育不全、多指（趾）畸形以及皮肤和肠道发育异常——库里·琼斯综合征。
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.
作者信息
Temple I K, Eccles D M, Winter R M, Baraitser M, Carr S B, Shortland D, Jones M C, Curry C
机构信息
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hants, UK.
出版信息
Clin Dysmorphol. 1995 Apr;4(2):116-29.
PMID:7606318
Abstract
Five children are described with a striking, asymmetric facial appearance, craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum and unusual skin with streaky areas of atrophy. The gut and mucous membranes are involved in two patients. This paper includes two patients described by Gorlin (1990) under the designation of the Curry Jones syndrome.
摘要
本文描述了5名儿童，他们具有显著的不对称面部外观、颅缝早闭、轴前多指畸形、胼胝体发育不全以及伴有萎缩条纹区域的异常皮肤。两名患者的肠道和黏膜也受到影响。本文纳入了戈林（1990年）描述的两名诊断为库里·琼斯综合征的患者。
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