Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
J Stomatol Oral Maxillofac Surg
; 120(5): 428-431, 2019 Nov.
Article
em En
| MEDLINE
| ID: mdl-30641283
ABSTRACT
Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. GDD combines craniofacial fibro-osseous lesions, dental loss and progressive curvature and cortical thickening of long bones and vertebra, causing pathological fractures. Diagnosis is based on bone pathology and mutation screening. Here we report three GDD cases within a single family with a novel ANO5 mutation c.1790 G > T (p.Arg597Ile, i.e. R597I) on exon 16. Microsurgical mandibular reconstructions were performed in the three cases. We reviewed the literature on jaw reconstruction in this condition and discussed the challenges of craniofacial reconstruction in GDD due to the diffuse bone anomalies affecting potential flap donor zones and a specific risk for jawbone osteomyelitis.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
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Reconstrução Mandibular
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Anoctaminas
Limite:
Humans
Idioma:
En
Revista:
J Stomatol Oral Maxillofac Surg
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
França