伴有隐睾症和正常身材的颅面骨发育不全

Craniofacial dyssynostosis with cryptorchidism and normal stature.

作者信息

Al-Torki N A, Sabry M A, Al-Tawari A, Al-Kandari N H, Al-Awadi S A

机构信息

Medical Genetics Centre, Maternity Hospital, Kuwait.

出版信息

Am J Med Genet. 1998 Aug 27;79(1):5-7. doi: 10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p.

DOI:10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p

PMID:9738859

Abstract

We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.

摘要

我们描述了一名患有颅面骨发育不全的阿拉伯男孩。他表现出面部异常、智力发育迟缓、癫痫、肌张力减退和胼胝体发育不全。本报告再次强调了先前报道的颅面骨发育不全综合征的特征，并表明隐睾症是该综合征特征的一部分，且身材正常并不排除该诊断。