安乐乡综合症。在一个印度裔南非家庭中报告了三例病例。

Y. Yacoob, Bill Pla, Patel
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引用次数: 2

摘要

柯凯因综合征(CS)是一种多系统光敏性遗传病,由于DNA修复缺陷。柯凯因综合征的特征是出生后生长衰竭和进行性神经功能障碍。我们描述了三个病人;一名23岁女性,患有精神运动和生长迟缓、行走困难和听力受损,以及她的两个表亲;一名17岁的男性和他13岁的弟弟都有类似的问题。病人的母亲是姐妹,他们的父亲是兄弟。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cockayne Syndrome. Report of three cases in a South African family of Indian origin.
Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers.
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