Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.

[dentin dysplasia]

Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder caused by mutations in the Connexin 43 gene (GJA 1 ). Described here is a previously undiagnosed case of an 8 -year -old boy with enamel and dentin hypoplasia and typical faces . In this presentation , many typical clinical and radiographical features of this condition are present . The characteristic features include a typical face , premature loss of primary teeth and odontodysplasia of permanent teeth , clinodactyly , ocular signs , and CNS involvement . To our knowledge , the case that we report here is the first case with mamelon-shaped tip of the tongue and enlarged midpalatal raphe .