Osteopetrosis (Albers-Schonberg's disease, Marble bones, and chalk bones) is a rare genetic disorder in which the bony structure throughout the body becomes dense and brittle. Because of the fragility of the pathologic bone, fractures are common and insufficient development of the bone marrow, optic atrophy, deafness, and facial paralysis can be developed to complications. We report a case of 35-year-old female with the autosomal dominant form of osteopetrosis combined with subtrochanteric fracture of femur that underwent surgical treatment.
Osteopetrosis is a rare inheritable skeletal disorder caused by a defective remodeling mechanism. The resultant bone of these children is dense, brittle and susceptible to fracture. We report a case of the subtrochanteric fracutre in osteopetrosis.
Osteopetrosis is a rare skeletal disorder characterized by increased bone radiodensity with diminished bone resorption due to malfunction of the osteoclasts. Orthopaedic problems in the intermediate and autosomal dominant form include increased fracture, coxa vara, long bone bowing, hip and knee degenerative arthritis, and mandibular and long bone osteomyelitis. Healing of osteopetrotic bone is slow, and surgical treatment may be complicated by unusual technical problems of internal fixation due to bony hardness. The authors have experienced three cases of fracture with osteopetrosis and those cases are to be reported with exhaustive review of reference.
Bone quality in osteopetrosis patient is very hard but brittle and easily fractured by triviat trauma. In case of pathological fractures in osteopetrosis patient, most of the fractures are treated by conservative treatments. But some long bone fractures are difficult to treat conservatively.
A few surgeons treated the fracture by open reduction and internal fixation(ORIF) and they came to agree that ORIF of fractures were very difficult technically. We tried plate and screw fixation for a subtrochanteric fracture of femur in a 20-year-old osteopetrosis patient who have already had 4 previous long bone fractures.
1. We changed drill bit everytime for every screw hole penetration and it took about 2 minutes for a hole.
2. ORIF is adventageous in fracture of suitable location in osteopetrosis patient.
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Triple Osteotomy for Hallux Valgus in Patient with Osteopetrosis - A Case Report - Seung Do Cha, Hyung Soo Kim, Jeong Hyun Yoo, Jai Hyung Park, Joo Hak Kim, Joo Won Joh The Journal of the Korean Orthopaedic Association.2008; 43(6): 808. CrossRef