Fractures in patients with osteopetrosis, insights from a single institution

Osteopetrosis is a hereditary skeletal disorder in which defective osteoclast function leads to abnormally hard and brittle bones. This study aims to describe the pattern of fractures occurring in this group of patients, possible complications, and strategies to avoid them.

This is a case series of six osteopetrotic patients with a total of 12 fractures managed in our institution over a period of nine years. Patient records were also reviewed for complications both intra- and post-operatively.

The majority of the fractures involved the femur, with three of these being peri-implant in nature. Other bones involved include the tibia, humerus, patella, fifth metatarsal, and proximal phalanx of the toe. There was a high rate of complications while managing these patients: three patients had peri-implant stress fractures, three with retained broken screws, and one case each of delayed union, non-union, and surgical site infection.

Osteopetrosis fractures present a unique challenge to the orthopedic surgeon. Careful pre-operative planning should be undertaken before proceeding with surgery in these cases.