title: Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.
abstract: 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.
authors.affiliation: Department of Pediatric Dentistry, School of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran. aslaminabadi@gmail.com
authors.forename: Naser Asl
authors.initials: NA
authors.lastname: Aminabadi
authors.forename: Azin Taghizadeh
authors.initials: AT
authors.lastname: Ganji
authors.forename: Ali
authors.initials: A
authors.lastname: Vafaei
authors.forename: Maryam
authors.initials: M
authors.lastname: Pourkazemi
authors.forename: Sina Ghertasi
authors.initials: SG
authors.lastname: Oskouei
mesh_terms: D002648:Child; D002896:Chromosomes, Human, Pair 6; D018031:Connexin 43 / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D003805:Dentin Dysplasia / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D018126:Odontodysplasia / Q000235:genetics*; D021362:Palate, Hard / Q000002:abnormalities; D035781:Siblings; D013576:Syndactyly; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000235:genetics
chemical_list: D018031:Connexin 43