Gnathodiaphyseal dysplasia

Abstract

Gnathodiaphyseal dysplasia (GDD) is an orthopedic condition involving cemento-osseous lesions of jaw bones, sclerosis, bowing of tubular bones, and overall bone fragility. This is a case report of GDD in which an 18-year-old female presented with a several-year history of bony abnormalities of the jaw and long bones. Radiographs demonstrated endosteal thickening, bowing of long bones, and abnormalities of the skull. These findings, along with the patient's known maxillary region cementoma, led to a diagnosis of GDD.

Fibro-Osseous Lesions of the Craniofacial Skeleton: An Update

“…In some cases the lesions are expansive radiolucent with radiopaque areas that closely resemble those seen in FGC (Fig. 8) [62,65,66]. They affect both maxilla and mandible bilaterally.…”

Recurring gnathodiaphyseal dysplasia in two Russian brothers

“…Despite the topology of the lesions, cherubism, characterized by extensive cystic lesions, was unlikely because of the solid aspect of the tumor on standard X-rays and CT scans. The association of long-bone bowing with cortical thickening and fibro-osseous facial tumors suggested another pathology, gnathodiaphyseal dysplasia 1,11 .…”

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

“…1 GDD was first described by Akasaka et al 2 in a Japanese fourgeneration family including 21 patients, exhibiting frequent bone fractures at a young age, purulent osteomyelitis of the jaws during adult life and an autosomal dominant inheritance. Riminucci et al 3 studied the disease in depth from a clinical and histological point of view and proposed the name 'gnathodiaphyseal dysplasia' , describing it as an autosomal dominant syndrome characterized by fibro-osseous lesions of the jawbones with a prominent psammomatoid body component that produces facial deformity, fractures due to bone fragility and characterized by normal healing without bone deformity, and bowing/sclerosis of tubular bones.…”