Double jaw surgery for a patient with Gnathodiaphyseal dysplasia (GDD): A case report and literature review.

Gnathodiaphyseal Dysplasia is a rare autosomal-dominant disease caused by a mutation in GDD1. Patients typically present with pathological fractures, muscle weakness, and jawbone deformities. This genetic disorder has long been misdiagnosed until 2004 when the genetic basis of this disorder was identified, differentiating it from Osteogenesis Imperfecta and Fibrous Dysplasia. However, clinicians are still largely unaware of this entity and continue to label and treat it as a variation of Osteogenesis Imperfecta. This report describes a 21-year-old male with GDD presenting with numerous fractures and Angle Class III malocclusion. He was treated with LeFort 1 advancement and Bilateral Sagittal Split Osteotomy of the mandible with setback procedures. No complications were seen and 2-year follow-up showed stable dental occlusion. This is the first report describing orthognathic surgery safely performed on a patient with GDD1. Other procedures are possible, but more research is needed to develop best practices for this disorder. CONSENT AUTHORIZATION: The patient provided written consent for publication of the clinical photos.