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[科凯恩综合征与营养不良性大疱性表皮松解症(Hallopeau - Siemens型)。一个家族中的同时发病情况]

[Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

作者信息

Lubach D, Riechers U

出版信息

Hautarzt. 1982 Sep;33(9):491-4.

PMID:7174321
Abstract

A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

摘要

本文描述了一个有四个孩子的土耳其家庭,其中两个男孩患有科凯恩综合征,一个女孩患有隐性营养不良型大疱性表皮松解症(Hallopeau-Siemens型)。这两个兄弟的突出特征是生长明显迟缓,大约在1.5岁时两个孩子均开始出现这种情况,面部特征类似早老症,并且在出生后不久就表现出高度的光敏感。女儿在4岁时死于败血症。这两种疾病都很罕见,可能是极高近亲结婚率的结果。

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