Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction

S J Charles; A T Moore; J R Yates; T Green; P Clark

doi:10.1136/jmg.27.9.590

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction

J Med Genet. 1990 Sep;27(9):590-2. doi: 10.1136/jmg.27.9.590.

Authors

S J Charles¹, A T Moore, J R Yates, T Green, P Clark

Affiliation

¹ Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Blindness / complications
Blindness / genetics
Consanguinity
Deafness / complications
Deafness / genetics
Diabetes Mellitus, Type 1 / complications
Diabetes Mellitus, Type 1 / genetics
Electroretinography
Female
Genes, Recessive*
Glomerular Filtration Rate
Humans
Hypothyroidism / complications
Hypothyroidism / genetics*
Obesity / complications
Obesity / genetics
Pedigree
Syndrome