一例伴有颅外面部表现的散发性疑似克鲁宗综合征病例。
A sporadic case of apparent Crouzon's syndrome with extracraniofacial manifestations.
作者信息
Leonard M A
出版信息
J Med Genet. 1974 Jun;11(2):206-8. doi: 10.1136/jmg.11.2.206.
Abstract
A case is presented which may represent a fresh mutation with craniofacial characteristics of Crouzon's syndrome and skeletal abnormalities suggestive of Carpenter's syndrome together with mild skin syndactyly.
摘要
本文报告了一例病例，该病例可能代表一种新的突变，具有克鲁宗综合征的颅面特征、提示卡彭特综合征的骨骼异常以及轻度皮肤并指。
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