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淋巴水肿与双行睫综合征

Syndrome of lymphoedema and distichiasis.

作者信息

Pap Z, Biró T, Szabó L, Papp Z

出版信息

Hum Genet. 1980;53(3):309-10. doi: 10.1007/BF00287047.

Abstract

A family of ten members in three generations who were affected by lymphoedema with or without distichiasis (extra rows of eyelashes) was observed. This combination of symptoms can be presumed to represent a rare but well-defined hereditary syndrome transmitted by an autosomal dominant gene. Some years ago the published pedigrees of congenital hereditary lymphoedema were reviewed and analysed genetically by Esterly (1965). Recently papers have been published on the association of lymphostasis with congenital distichiasis (Falls and Kertesz, 1964; Robinow et al., 1970; Jester, 1977). We report here a family with ten members in three generations affected by lymphoedema with or without distichiasis.

摘要

观察到一个三代同堂的十口之家,家庭成员患有淋巴水肿,伴有或不伴有双行睫(额外的睫毛排)。这种症状组合可推测代表一种罕见但明确的常染色体显性基因遗传综合征。几年前,埃斯特利(1965年)对已发表的先天性遗传性淋巴水肿家系进行了回顾和遗传学分析。最近,有论文发表了关于淋巴淤滞与先天性双行睫的关联(福尔斯和凯泰斯,1964年;罗宾诺等人,1970年;杰斯特,1977年)。我们在此报告一个三代同堂的十口之家,家庭成员患有伴有或不伴有双行睫的淋巴水肿。

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