Infantilism, Obesity and Retinal Dystrophy
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چکیده
In 1866 Laurence and Moon reported ' Four cases of " retinitis pigmentosa" occurring in the same family and accompanied by general imperfections of development.' These imperfections included small stature, hypogenitalism, obesity and mental defect, although little emphasis was placed on the two last. Over fifty years later, Bardet (1920) added polydactyly to the syndrome, and in 1922 Biedl, reporting three new cases, emphasized the familial character of the syndrome, the occurrence of mental defect and the occasional association of other abnormalities.
منابع مشابه
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity
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متن کاملBardet-Biedl syndrome: a case report.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-...
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تاریخ انتشار 2007