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J Med Genet 20:216-219 doi:10.1136/jmg.20.3.216
  • Research Article

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

Abstract

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.