Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Hoffman, JD; Jacobson, Z; Young, TL; Marshall, JD; Kaplan, P
Published Date
- May 15, 2005
Published In
Volume / Issue
- 135 / 1
Start / End Page
- 96 - 98
PubMed ID
- 15809999
International Standard Serial Number (ISSN)
- 1552-4825
Digital Object Identifier (DOI)
- 10.1002/ajmg.a.30688
Language
- eng
Conference Location
- United States