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两姐妹出现无毛症、异常脑电图、癫痫和智力发育迟缓。

Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters.

作者信息

Richieri-Costa A, Frota-Pessoa O

出版信息

Hum Hered. 1979;29(5):292-7.

PMID:489029
Abstract

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

摘要

本文描述了一对非近亲结婚夫妇的两个女儿。她们都有智力发育迟缓、癫痫发作、先天性无毛症、组织学异常的皮肤以及异常的脑电图模式。通过对无毛症相关文献的讨论,区分出了不涉及牙齿、指甲和出汗功能的类型,其中隐性遗传占主导,这些类型均与本文所描述的综合征不符。

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