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一名非洲儿童中与巴德-比德尔综合征相关的肛门皮肤瘘

Ano-cutaneous fistula associated with Bardet-Biedl syndrome in an African child.

作者信息

Kalangu K K, Wolf B

机构信息

Department of Neurosurgery, University of Zimbabwe, Harare.

出版信息

East Afr Med J. 1994 May;71(5):330-1.

PMID:7925068
Abstract

An ano-cutaneous fistula associated with a Bardet-Biedl syndrome in a 12-year old African boy is described. The patient presented with mental retardation, obesity, syndactyly, polydactyly, retinitis pigmentosa and hypogenitalism. Past history revealed that he had an imperforated anus with anocutaneous fistula at birth, which was repaired successfully. The the best of our knowledge, it is the first case described in the African literature.

摘要

本文描述了一名12岁非洲男孩患有与巴德-比埃尔综合征相关的肛门皮肤瘘。该患者表现为智力发育迟缓、肥胖、并指(趾)、多指(趾)、色素性视网膜炎和生殖器发育不全。既往史显示他出生时患有肛门闭锁伴肛门皮肤瘘,已成功修复。据我们所知,这是非洲文献中描述的首例病例。

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