Orthopedic management of osteopetrosis: results of a survey and review of the literature.

Osteopetrosis or Albers-Schonberg disease is a rare hereditary disorder of osteoclast function in which resorption of bone is diminished, resulting in abnormally dense bones. The condition is known to occur in at least four recognizable clinical patterns, each of which is variable. The optimal treatment of fractures and of bone deformity in these patients has not previously been made clear. To determine appropriate orthopedic management of the condition, we conducted a survey of the membership of the Pediatric Orthopedic Society of North America. The combined experience of 57 surgeons who treated 79 patients with osteopetrosis was compiled. Four femoral neck fractures treated by closed reduction and internal fixation had a satisfactory result, but three treated nonoperatively developed varus and required osteotomy. A total of 20 hips was treated for coxa vara by various means, none of which was free of complications. Valgus osteotomy, when used as the primary treatment for coxa vara, was the most consistently satisfactory procedure, whereas in situ pinning failed in two of three hips. Fourteen subtrochanteric fractures and 31 other fractures of the femur were treated. Good results were reported with traction or casting or both in the majority of those fractures. Twenty-nine tibia fractures were treated successfully, the majority by nonoperative means. Upper extremity fractures healed well with closed reduction and casting. Vertebral fractures, spondylolysis, and back pain were most frequently treated without surgery.