چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 gene (GJA1). 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. |
| نویسنده | نفر چندم مقاله |
|---|---|
| ناصر اصل امین آبادی | اول |
| علی وفایی | سوم |
| سینا قرطاسی اسکوئی | پنجم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| Oculodentodigital dysplasia disease spectrum in an eight-year-old boy his parents and a sibling.pdf | 1399/01/29 | 547058 | دانلود |
