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Original Research

Open Access

Oculodentodigital Dysplasia: Disease Spectrum in an Eight-year-old Boy, His Parents and a Sibling

  • Naser Asl Aminabadi1,*,
  • aslaminabadi@gmail.com n-aminabadi@tbzmed.ac.ir1
  • Ali Vafaei1
  • Maryam Pourkazemi1
  • Sina Ghertasi Oskouei1

1Department of Pediatric Dentistry, School of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran

DOI: 10.17796/jcpd.33.4.0r02810u1533h168 Vol.33,Issue 4,July 2009 pp.337-342

Published: 01 July 2009

*Corresponding Author(s): Naser Asl Aminabadi E-mail: aslaminabadi@gmail.com n-aminabadi@tbzmed.ac.ir

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.

Keywords

Oculodentodigital dysplasia, clinodactyly, odontodysplasia

Cite and Share

Naser Asl Aminabadi,aslaminabadi@gmail.com n-aminabadi@tbzmed.ac.ir,Ali Vafaei,Maryam Pourkazemi,Sina Ghertasi Oskouei. Oculodentodigital Dysplasia: Disease Spectrum in an Eight-year-old Boy, His Parents and a Sibling. Journal of Clinical Pediatric Dentistry. 2009. 33(4);337-342.

References

1. Feller L, Wood NH, Sluiter MD, Noffke C, Raubenheimer EJ, Lemmer J, van Rensburg EJ. Report of a black South African child with oculo-dentodigital dysplasia and a novel GJA1 gene mutation. Am J Med Genet A, 146A: 1350–3, 2008.

2. Dobrowolski R, Sommershof A, Willecke K. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. J Membr Biol, 219: 9–17, 2007.

3. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Kee-gan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of ocu-lodentodigital dysplasia. Am J Hum Genet, 72: 408–18, 2003.

4. van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg, 36: 858–60, 2007.

5. Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol, 16: 241–5, 2006.

6. Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neuro-logical manifestations of the oculodentodigital dysplasia syndrome. J Neurol, 249: 584–95, 2002.

7. Vitiello C, D’Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S. A novel GJA1 mutation causes oculodentodigital dysplasia without syn-dactyly. Am J Med Genet A, 133A: 58–60, 2005.

8. Scheutzel P. Oculodentodigital syndrome: report of a case. Dentomax-illofac Radiol, 20: 175–8, 1991.

9. Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M. Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet, 70: 71–2, 2006.

10. Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ 2nd, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22–q23. Genomics, 58: 34–40, 1999.

11. Shapiro RE, Griffin JW, Stine OC. Evidence for genetic anticipation in the oculodentodigital syndrome. Am J Med Genet, 11; 71: 36–41, 1997.

12. Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr, 167: 341–5, 2008.

13. Marques AC, Castro WH, do Carmo MA. Regional odontodysplasia: an unusual case with a conservative approach. Br Dent J, 186: 522–4, 1999.

14. Grimston SK, Brodt MD, Silva MJ, Civitelli R. Attenuated response to in vivo mechanical loading in mice with conditional osteoblast ablation of the connexin 43 gene (Gja1). J Bone Miner Res, 23: 879–86, 2008.

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