Bardet-Biedl Syndrome - A Rare Cause of Cardiomyopathy

被引：0

作者：

Yadav, Dinesh Kumar ^{[1
]}

Beniwal, Mukesh Kumar ^{[1
]}

Jain, Aditi ^{[1
]}

机构：

[1] Dr RML Hosp, PGIMER, Dept Neonatol & Pediat Med, Div Pediat Cardiol, New Delhi, India

来源：

INDIAN PEDIATRICS | 2013年 / 50卷 / 06期

关键词：

Bardet-Biedl syndrome; Cardiomyopathy;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and renal anomalies. Cardiomyopathy in association with BBS has previously being reported only twice in literature. We report a case of a patient presenting with features of cardiomyopathy, who was subsequently diagnosed to have BBS.

引用

页码：599 / 601

页数：3

共 50 条

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