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Case Reports
. 2005 May 15;135(1):96-8.
doi: 10.1002/ajmg.a.30688.

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs

J D Hoffman  1 , Z Jacobson, T L Young, J D Marshall, Paige Kaplan
Affiliations
Case Reports

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs

J D Hoffman et al. Am J Med Genet A. .

Abstract

Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and dilated cardiomyopathy. We report on four sibs with Alström syndrome with intra-familial variability in onset, severity, and spectrum of manifestations; the most serious manifestation being dilated cardiomyopathy. This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression.

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