Hepatic dysfunction in two sibs with Alström syndrome: Case report and review of the literature

American Journal of Medical Genetics

Volumn 69, Issue 1, 1997, Pages 13-16

  Awazu, Midori ^a   Tanaka, Tetsuya ^a   Sato, Seiji ^a   Anzo, Makoto ^a   Higuchi, Masataka ^a   Yamazaki, Kazuto ^a   Matsuo, Nobutake ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

Alstr m syndrome; Deafness; Diabetes mellitus; Hepatitis; Liver cirrhosis; Nephropathy; Obesity; Retinal degeneration; Variant

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DISEASE ASSOCIATION; FEMALE; HEARING IMPAIRMENT; HEPATITIS; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; LIVER BIOPSY; LIVER CIRRHOSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PRIORITY JOURNAL; RETINA DEGENERATION; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; DEAFNESS; DIABETES MELLITUS, TYPE 2; FEMALE; HUMANS; LIVER; MALE; OBESITY; RETINAL DEGENERATION; SYNDROME;

EID: 0031046702     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970303)69:1<13::aid-ajmg3>3.0.co;2-u     Document Type: Review

References (6)

1. Alström CH, Hallgren B, Nilsson LB, Asander H (1959): Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness. A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 129(Suppl):1-35.
2. Connolly MB, Jan JE, Couch RM, Wong LTK, Dimmick JE, Rigg JM (1991): Hepatic dysfunction in Alström disease. Am J Med Genet 40:421-424.
3. Gholson CF, Bacon BR (1992): Metabolic and systemic diseases. In Gitnick G, LaBrecque DR, Moody FG (eds): "Diseases of the Liver and Biliary Tract." St. Louis: Mosby Year Book, pp 489-521.
4. Goldstein JL, Fialkow PJ (1973): The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine 52:53-71.
5. Horiuchi N, Sasaki A, Suzuki T, Endo Y, Kiyonaga G (1976): A case of Alström syndrome with cirrhosis of the liver. J Jpn Diab Soc 19: 353-359.
6. Ikeda Y, Morita Y, Matsuo Y, Akanuma Y, Itakura H, Yamaji T, Kosaka K (1974): A case of Alström syndrome associated with situs inversus totalis and characteristic liver cirrhosis. J Jpn Soc Intern Med 63:41-19.