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另1例巴德-比德尔综合征病例。

A further case of Bardet-Biedl syndrome.

作者信息

Kalangu K K

机构信息

University of Zimbabwe, Department of Neurosurgery, Harare.

出版信息

Cent Afr J Med. 1995 May;41(5):167-9.

PMID:7628002
Abstract

Bardet-Biedl syndrome in a 10 year old boy from Botswana is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. The patient has a twin brother who has the same clinical signs. This is the second time this condition has been described in the African literature and the first time reported in Black twins.

摘要

本文描述了一名来自博茨瓦纳的10岁男孩患有的巴德-比德尔综合征。该患者表现为色素性视网膜炎、多指畸形、智力发育迟缓、肥胖和性器官发育不全。该患者有一个患有相同临床症状的双胞胎兄弟。这是非洲文献中第二次描述这种病症,也是首次报道于黑人双胞胎中。

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