Peculiar, “old-looking,” face with small mouth
opening, small jaw with hypoplastic mandibular rami, small and irregular
teeth, narrow, sharp nose, and cataracts in both eyes. The chest was small with
protruding sternum and scapulae. Lumbar lordosis was present, but no kyphoscoliosis. The extremities were
relatively long and thin, with large hands and feet and muscle tone
was decreased. Skeletal radiographs
showed marked, generalized epiphyseal and metaphyseal ossification
disturbances. Mental and developmental delay were present.
The electrocardiogram showed signs of right ventricular hypertrophy. All laboratory investigations were normal except for elevated
gonadotropins and sustained elevation of blood glucose levels after glucose
tolerance tests.