This case report provides further evidence for autosomal recessive inheritance and endocrinological dysfunction in Alstrom's syndrome.
Supports recessive inheritance in Alstrom syndrome counseling; extends sparse case evidence but leaves confirmation open.
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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Charles et al. (1990) studied this question.
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