J Med Genet. 1990 Sep;27(9):590-2.

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

Charles SJ, Moore AT, Yates JR, Green T, Clark P.

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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.

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