Article
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.
The Journal of clinical pediatric dentistry - 1 Jan 2009
Aminabadi Naser Asl, Ganji Azin Taghizadeh, Vafaei Ali, Pourkazemi Maryam, Oskouei Sina Ghertasi
Abstract excerpt
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...
Topics
- Child
- Chromosomes, Human, Pair 6
- Connexin 43
- Consanguinity
- Craniofacial Abnormalities
- Dental Enamel Hypoplasia
- Dentin Dysplasia
- Eye Abnormalities
- Fingers
- Genes, Dominant
- Humans
- Male
- Mutation
- Odontodysplasia
- Palate, Hard
- Siblings
- Syndactyly
- Syndrome