Article
Alstrom syndrome (OMIM 203800): a case report and literature review.
Orphanet journal of rare diseases - 21 Dec 2007
Joy Tisha, Cao Henian, Black Graeme, Malik Rayaz, Charlton-Menys Valentine, Hegele Robert A, Durrington Paul N
Abstract excerpt
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome,...
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