title: Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.
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.
authors.affiliation: Section of Metabolic Diseases, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Hoffman
authors.forename: Z
authors.initials: Z
authors.lastname: Jacobson
authors.forename: T L
authors.initials: TL
authors.lastname: Young
authors.forename: J D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Paige
authors.initials: P
authors.lastname: Kaplan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002311:Cardiomyopathy, Dilated / Q000473:pathology*; D018797:Cell Cycle Proteins; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005128:Eye Diseases / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D007006:Hypogonadism / Q000473:pathology; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D035781:Siblings; D013577:Syndrome
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins