Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report

Background: Gnathodiaphyseal dysplasia (GDD) is an extremely rare autosomal dominant disease characterized by cemento-osseous lesions in the jawbones, bone fragility, and diaphyseal sclerosis of the tubular bones. Patients with GDD are prone to sustain fractures by minor accidents. Although over 80 cases have been reported, detailed information about the orthopedic treatment of the fractures is limited.

Case presentation: A 9-year-old Japanese girl with a known history of GDD presented with pain and deformity in the left thigh after a minor fall. She had a displaced transverse fracture in the mid-shaft of the left femur and underwent a closed reduction and external fixation. In the 25th week after the initial surgery, she had another fracture in the left femur at one of the half-pin insertion sites. She underwent an external fixation again. After this operation, the patient sustained another refracture at the same fracture site and one supracondylar fracture at the distant site of the femur. The supracondylar fracture occurred without any triggering activity before beginning a weight-bearing exercise. The supracondylar fracture was successfully treated conservatively, but she sustained two more diaphyseal fractures at half-pin insertion sites one after another. She eventually underwent a revision surgery with a flexible intramedullary nail. At 3 months postoperatively, the fracture was healed and the patient maintained her ambulatory status without further refracture.

Conclusions: Patients with GDD might have narrower safety ranges of biomechanical and physiological drawbacks, which are considered to be acceptable in ordinary cases. The choice of treatment should be aimed at minimizing these negative effects. We recommend intramedullary devise as the first-choice implant for the treatment of isolated femoral shaft fracture in GDD patients in this age group.