Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
AUTOR(ES)
Fraser, F C
RESUMO
Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013555Documentos Relacionados
- Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.
- Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
- Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?
- Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?
- Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.