Familial brachyolmia

Brachyolmia is characterized clinically by short stature and radiographical ly by generalized platyspondyly without significant long bone abnormalities . A healthy 13-8/12 year-old girl was referred for evaluation of short stat ure. The parents were first cousins. She had two older brothers and a young er brother and sister, On examination, her height was 116.2 cm, height SDS -6.2, armspan 135 cm, She had completed puberty. Except for her short trunk and lower extremities and mild scoliosis, she appeared normal, At 12 years old, the younger brother had short stature. His height was 104.7 cm, heigh t SDS -6.2, armspan 116 cm, The younger sister was 3 years old. Her height was 84.2 cm, height SDS -2.9, armspan 85 cm. Other findings were normal in the younger sister and brother. The other members of the family were of nor mal stature and appearance. The proband's growth hormone stimulation tests, thyroid function tests, sex steroids, gonadotropins and blood biochemistry were found normal. There were similar radiological findings in the three s iblings. There was platyspondyly, narrowing of intervertebral spaces in all vertebral bodies. The iliac bones were broad. No metaphyseal irregularity and normal epiphyses were detected in all patients. No significant changes were seen in long bones and skull. According to the physical and radiologic al findings, the patients were evaluated as brachyolmia.