Suppr超能文献

杜波维茨综合征

The Dubowitz syndrome.

作者信息

Küster W, Majewski F

出版信息

Eur J Pediatr. 1986 Apr;144(6):574-8. doi: 10.1007/BF00496039.

Abstract

The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.

摘要

杜波维茨综合征是一种罕见的常染色体隐性遗传性疾病,可导致宫内和出生后生长发育迟缓,进而引起小头畸形、中度智力障碍以及一些典型的面部异常,如眼距增宽、内眦赘皮、睑裂狭小、上睑下垂、鼻梁和鼻尖变宽、耳部异常和小颌后缩。其他表现包括多动、湿疹、患病男性的隐睾症以及第五指短指内弯。文献中已报道33例该综合征病例。本文介绍另外5例患者。所有5例均为散发病例。文中讨论了诊断症状和鉴别诊断。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验