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gnathodiaphyseal dysplasia; osteogenesis imperfecta with unusual skeletal lesions; gnathodiaphyseal sclerosis
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:
1) frequent bone fractures caused by trivial accidents in childhood
2) fractures heal normally without bone deformity
3) jaw lesions sometimes cause facial deformities
4) propensity for jaw infection
5) 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
General
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
Database Correlations
OMIM 166260
References
OMIM :accession 166260