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A Journal on Dentistry and Maxillofacial Surgery
Minerva Stomatologica 2005 July-August;54(7-8):453-60
language: English, Italian
Oculodentodigital dysplasia. A case report
Itro A., Marra A., Urciuolo V., Difalco P., Amodio A.
This report describes a rare case of oculodentodigital (ODD) dysplasia, an autosomic-dominant disease with alteration on the gene GJA1 of connexin 43 on the human chromosome 6q22-q23, highlighting the anomalies affecting face, eyes, teeth and limbs. The case described shows bilateral microphthalmia, microcornea, syndactyly and other phenotypic alterations characteristic of this syndrome, such as: nose of reduced size with hypoplasic wings, partial stenosis of the choanae, micrognathia, ogival palate and hypoplasia of the enamel. The authors emphasize the importance to know the principal features of ODD syndrome in order to make a correct diagnosis and the role of the dentist in the treatment of this pathology.