Robert Lang, MD, Fellow in Metabolism, Department of Medicine, the Jewish Hospital of St. Louis, Instructor in Medicine, Washington University School of Medicine: A 17-year-old woman with known osteopetrosis was the product of an uncomplicated delivery, but she sustained her first fracture before the age of 1 year. Since that time, she has had over 25 additional fractures involving both the upper and lower extremities. The fractures have developed after only minimal trauma. Menarche occurred at age 11 with normal development of secondary sexual characteristics. Two of her sisters have radiographically documented osteopetrosis.
She was of short stature, with obvious dental malocclusion. Other prominent abnormalities noted on examination were a high arched palate, bilateral optic atrophy, a left peripheral facial nerve paralysis, and slight hepatomegaly. Vital signs, cardiac examination, and examination of the lungs were unremarkable. Edema was not present. Radiological examination showed widespread osteosclerosis and evidence of previous fractures