At the time of description, the older individual
was a 26-year-old man; his sister was 16 years old. Both had dwarfism and a
characteristic bird-like facies. The two siblings were mentally retarded and
suffered from progressive ataxia and epilepsy. Multiple endocrinopathies
included goiter, primary gonadal insufficiency, and insulin-resistant
diabetes mellitus. Thyroid-stimulating hormone was elevated in one, but both
were clinically euthyroid. Age at onset of diabetes mellitus in the male was
16 years; the girl was not diabetic at the time of description. Parathyroid
hormone, luteinizing hormone, follicle-stimulating hormone, and
adrenocorticotropic hormone levels were elevated.