Article
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 May 2016
Duong Hannah A, Le Karen T, Soulema Albert L, Yueh Ronald H, Scheuner Maren T, Holick Michael F, Christensen Russell, Tajima Tracey L, Leung Angela M, Mallya Sanjay M
Abstract excerpt
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son...
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