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。
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