Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.
摘要：
Three siblings with onset of diabetes mellitus infancy are reported. Two (and possibly all three) of the children also had multiple epiphyseal dysplasia. Demineralization of the bone with multiple fractures, tooth discoloration, and skin abnormalities were also observed. A unifying biochemical or physiologic mechanism for the simultaneous appearance of diabetes, epiphyseal dysplasia, and possible ectodermal dysplasia has not suggested itself, but this may represent a new syndrome.
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关键词：
Humans Tooth Discoloration Chondrodysplasia Punctata Bone Resorption Skin Manifestations Diabetes Mellitus Diabetes Mellitus, Type 1 Fractures, Bone Infant, Newborn Female
DOI：
10.1016/S0022-3476(72)80596-1
被引量：
年份：
1972
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