Alström Syndrome: A Case Misdiagnosed as Bardet-Biedl Syndrome-Reference-Cited by-同舟云学术

Alström Syndrome: A Case Misdiagnosed as Bardet-Biedl Syndrome

Published:1994-07 Issue:4 Volume:31 Page:272-274
ISSN:0191-3913
Container-title:Journal of Pediatric Ophthalmology & Strabismus
language:en
Short-container-title:J Pediatr Ophthalmol Strabismus

Author:

Dyer David S,Wilson M Edward,Small Kent W,Pai G Shashidhar

Publisher

SLACK, Inc.

Subject

Ophthalmology,General Medicine,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. 1. Alström CH Hallgren B Nilsson LB et al. Retinal degeneration combined with obesity diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from the LaurenceMoon -Bardet-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree. Acia Psychiatr Neuroi Seand. 1959;34(suppl 129): 1-35.

2. 2. Millay RH Weleber RG Heckenlively JR. Ophthalmologic and systemic manifestations of Alstrom's disease. Am J Ophthalmol. 1986; 102:482-490.

3. 3. Goldstein JL Fialkow PJ. The Alström syndrome: report of three cases with further delineation of the clinical pathological and genetic aspects of the disorder. Medicine. 1973;52:53-71.

4. 4. Sebag J Albert DM Craft JL. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. Br J Ophihalmol. 1984;68:494-50.

5. 5. Weinstein RI Kliman B Scully RE. Familial syndrome of primary testicular insufficiency with normal virilization blindness deafness and metabolic abnormalities. N Engl J Med. 1969;281:969-977.

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1. Alstrom syndrome (OMIM 203800): a case report and literature review;Orphanet Journal of Rare Diseases;2007-12

2. Alström Syndrome;European Journal of Human Genetics;2007-10-17

3. B;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. A Mild Form of Alstrom Disease Associated with Metabolic Syndrome and Very High Fasting Serum Free Fatty Acids: Two Cases Diagnosed in Adult Age;The American Journal of the Medical Sciences;2004-05

5. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty;Obesity Reviews;2002-05