Alström syndrome is an autosomal recessive disorder (MIM No. \*203800) characterized by retinal degeneration, obesity, deafness, noninsulin-dependent diabetes mellitus, and nephropathy. We report two sibs with Alström syndrome and hepatic dysfunction. The first sib developed elevations in liver enzy
✦ LIBER ✦
Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs
✍ Scribed by J.D. Hoffman; Z. Jacobson; T.L. Young; J.D. Marshall; Paige Kaplan
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 55 KB
- Volume
- 135A
- Category
- Article
- ISSN
- 1552-4825
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We describe a large Acadian kindred including 8 Alstro ¨m Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hea