Laurence-Moon-Bardet-Biedl综合征:特应性儿童的偶然诊断

P. Agarwal, P. Shah, Raju G. Chaudhary, Kalgi D. Baxi
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引用次数: 0

摘要

Laurence-Moon-Bardet-Biedl综合征(LMBBS)是一种罕见的常染色体隐性遗传病,具有临床和遗传异质性。其特征是杆状锥体营养不良,轴后多指畸形,中枢性肥胖,智力迟钝和性腺功能减退。它是一种罕见的遗传病,可以很容易地在临床基础上诊断,不依赖于实验室调查和遗传分析的诊断。我们报告一例青少年男孩,他主要是因特应性皮炎来就诊,他有典型的LMBBS的特征,在他来我院之前一直被忽视。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Laurence-Moon-Bardet-Biedl Syndrome: Fortuitous Diagnosis in an Atopic Child
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. It is characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. It is one of the few rare genetic diseases which can be diagnosed easily on a clinical basis and does not rely on laboratory investigations and genetic analysis for the diagnosis. We report a case of an adolescent boy who presented to us primarily for atopic dermatitis, who had typical features of LMBBS which had been overlooked till he came to our hospital.
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