Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.
Publication
, Journal Article
Hoffman, JD; Jacobson, Z; Young, TL; Marshall, JD; Kaplan, P
Published in: Am J Med Genet A
May 15, 2005
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.
Duke Scholars
Published In
Am J Med Genet A
DOI
ISSN
1552-4825
Publication Date
May 15, 2005
Volume
135
Issue
1
Start / End Page
96 / 98
Location
United States
Related Subject Headings
- Syndrome
- Siblings
- Proteins
- Pedigree
- Microsatellite Repeats
- Male
- Infant
- Hypogonadism
- Humans
- Hearing Loss, Sensorineural
Citation
APA
Chicago
ICMJE
MLA
NLM
Hoffman, J. D., Jacobson, Z., Young, T. L., Marshall, J. D., & Kaplan, P. (2005). Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A, 135(1), 96–98. https://doi.org/10.1002/ajmg.a.30688
Hoffman, J. D., Z. Jacobson, T. L. Young, J. D. Marshall, and Paige Kaplan. “Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.” Am J Med Genet A 135, no. 1 (May 15, 2005): 96–98. https://doi.org/10.1002/ajmg.a.30688.
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005 May 15;135(1):96–8.
Hoffman, J. D., et al. “Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.” Am J Med Genet A, vol. 135, no. 1, May 2005, pp. 96–98. Pubmed, doi:10.1002/ajmg.a.30688.
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005 May 15;135(1):96–98.
Published In
Am J Med Genet A
DOI
ISSN
1552-4825
Publication Date
May 15, 2005
Volume
135
Issue
1
Start / End Page
96 / 98
Location
United States
Related Subject Headings
- Syndrome
- Siblings
- Proteins
- Pedigree
- Microsatellite Repeats
- Male
- Infant
- Hypogonadism
- Humans
- Hearing Loss, Sensorineural