Gnathodiaphyseal dysplasia: review of the literature and treatment of two clinical cases
Authors:A. Rossi, T. Terenzio, L. Moneghini, D. Scarnò, M. Vitali, S. Giovannini
The aim of this paper is to perform a literature review regarding the Gnathodiaphyseal Dysplasia (GDD), describing two clinical cases.
MATERIALS AND METHODS
A literature search on PubMed and Scopus was carried out using the following keywords (“Gnathodiaphyseal Dysplasia”, “anoctamin 5”, “jawbone disease”, “fibro-osseous lesion”).
RESULTS AND CONCLUSIONS
Gnathodiaphyseal Dysplasia is a rare autosomal dominant syndrome caused by mutation in the ANO 5 gene. The most frequent clinical signs are: maxillary fibro-osseous lesions, bone fragility, diaphyseal cortical thickening and bowing of long bones. However, there is great variability between patients. Genetic screening is at present the only reliable diagnostic tool. Gnathodiaphyseal Dysplasia is a rare genetic syndrome that requires in-depth study and a multidisciplinary team.
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