gnathodiaphyseal dysplasia; osteogenesis imperfecta with unusual skeletal lesions; gnathodiaphyseal sclerosis

Introduction

Also see osteogenesis imperfecta

Epidemiology

rare

Pathology

• skeletal syndrome
• bone fragility
• sclerosis of tubular bones
• cemento-osseous lesions of the jawbone
  • jaw lesions replace tooth-bearing segments of the maxilla mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass

Genetics

• associated with defects in TMEM16E gene

Clinical manifestations

• frequent bone fractures caused by trivial accidents in childhood
• fractures heal normally without bone deformity
• jaw lesions sometimes cause facial deformities
• propensity for jaw infection
• purulent osteomyelitis-like symptoms, such as swelling of & pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction & exposure of lesions into oral cavity

More general terms

• osteogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/166260