1. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes
- Author
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John M. Opitz, Nils Eide, Helene Pande, Leiv Ose, and Dagfinn Aarskog
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Lipodystrophy ,Rieger anomaly ,Short stature ,Diabetes mellitus genetics ,Endocrine Glands ,Internal medicine ,Diabetes Mellitus ,medicine ,Humans ,Insulin ,Eye Abnormalities ,Buttocks ,Growth Disorders ,Genetics (clinical) ,Aged ,Genes, Dominant ,business.industry ,Partial Lipodystrophy ,Syndrome ,Middle Aged ,medicine.disease ,Body Height ,Pedigree ,medicine.anatomical_structure ,Endocrinology ,SHORT syndrome ,Child, Preschool ,Hypotrichosis ,Female ,medicine.symptom ,business - Abstract
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.
- Published
- 1983
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