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常染色体显性遗传性出汗性外胚层发育不良家族:一种此前未被认识的综合征?

Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome?

作者信息

Christianson A L, Fourie S

机构信息

Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa.

出版信息

Am J Med Genet. 1996 Jun 28;63(4):549-53. doi: 10.1002/(SICI)1096-8628(19960628)63:4<549::AID-AJMG7>3.0.CO;2-J.

Abstract

We describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho- and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston syndrome (their previous diagnosis) and places them in Group A, subgroup 1-3 (tricho-onychic) of the ectodermal dysplasia classification proposed by Freire-Maia and Pinheiro [1988, "Ectodermal Dysplasias"].

摘要

我们描述了一个三代家族,患有主要由毛发和甲发育异常组成的常染色体显性遗传性出汗性外胚层发育不良。其中一名患者患有室上性心动过速,另一名患者有心悸症状,还有两名患者有窦性心动过缓。我们认为该家族的临床表现与克劳斯顿综合征(他们之前的诊断)有显著差异,并将其归入弗雷雷 - 马亚和皮涅罗[1988年,《外胚层发育不良》]提出的外胚层发育不良分类中的A组,1 - 3亚组(毛发 - 甲)。

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