Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
Open Access
- 1 September 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (9) , 590-592
- https://doi.org/10.1136/jmg.27.9.590
Abstract
We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.Keywords
This publication has 7 references indexed in Scilit:
- Molecular Defects in Insulin ActionScience, 1989
- Ophthalmologic and Systemic Manifestations of Alström's DiseaseAmerican Journal of Ophthalmology, 1986
- Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptorHuman Genetics, 1985
- The Syndromes of Insulin Resistance and Acanthosis NigricansNew England Journal of Medicine, 1976
- REPORT OF THREE CASES WITH FURTHER DELINEATION OF THE CLINICAL, PATHOPHYSIOLOGICAL, AND GENETIC ASPECTS FO THE DISORDERMedicine, 1973
- The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in SwitzerlandJournal of the Neurological Sciences, 1969
- Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.1959