劳伦斯-穆恩-巴德-比德尔综合征

Laurence-Moon-Bardet-Biedl syndrome.

作者信息

Sahu J K, Jain V

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

JNMA J Nepal Med Assoc. 2008 Oct-Dec;47(172):235-7.

PMID:19079403

Abstract

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital.

摘要

劳伦斯-穆恩-巴德-比德尔综合征是一种罕见的、基因异质性的常染色体隐性遗传性疾病，临床表现具有广泛变异性。我们报告一例具有典型表型的劳伦斯-穆恩-巴德-比德尔综合征合并非酒精性脂肪性肝炎的病例。该患者在我院就诊之前，一直未被确诊。