Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.
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.
Aminabadi
Naser Asl
NA
Department of Pediatric Dentistry, School of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran. aslaminabadi@gmail.com
Ganji
Azin Taghizadeh
AT
Vafaei
Ali
A
Pourkazemi
Maryam
M
Oskouei
Sina Ghertasi
SG
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
D018031:Connexin 43