Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes.
We describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.
D000328:Adult; D000368:Aged; D001827:Body Height; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000235:genetics*; D004702:Endocrine Glands / Q000503:physiopathology; D005124:Eye Abnormalities; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007328:Insulin / Q000172:deficiency; D008060:Lipodystrophy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
D007328:Insulin