Gnathodiaphyseal dysplasia
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Sign InDescription
Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
281