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Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case

Year 2022, Volume: 2 Issue: 1, 74 - 77, 29.04.2022

Abstract

Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic
abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. We report on a case
of oculodentodigital syndrome with peculiar dental and multysistemic findings suggesting that a multidisciplinary
managment is mandatory along with an appropriate genetic counseling once the causative mutation is detected.

References

  • 1. Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia: four new reports and a literature review. Arch. Ophthal. 97: 878- 884, 1979.
  • 2. Gutmann DH, Zackai EH, McDonald-McGinn, DM, Fischbeck KH, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am. J. Med. Genet. 1991;41: 18-20.
  • 3. Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. Clin. Genet. 2013;84: 378-381.
  • 4. De Bock M, Kerrebrouck M, Wang N, Leybaert L. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? Front. Pharm. 2013;4: 120.
  • 5. Hadjichristou C, Christophidou-Anastasiadou V, Bakopoulou A, Tanteles GA, Loizidou MA, Kyriacou K, et al. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations. .Int J Prosthodont. 2017 ;30(3):280–285.
  • 6. Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M, Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. J Clin Pediatr Dent. 2009;33(4):337-41
  • 7. Fenwick A, Richardson RJ, Butterworth J, Barron MJ, Dixon MJ Novel mutations in GJA1 cause oculodentodigital syndrome. .J Dent Res. 2008 ;87(11):1021-6.
  • 8 Jensen ED. Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case. BMJ Case Rep. 2021;14(1):e238079..
  • 9. Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z. Dental management of oculodentodigital dysplasia: a case report. J Oral Sci. 2010;52(2):337-42.
  • 10. Kayalvizhi G, Subramaniyan B, Suganya G. Clinical manifestations of oculodentodigital dysplasia. J Indian Soc Pedod Prev Dent. 2014;32(4):350-2.
  • 11. Amano K, Ishiguchi M, Aikawa T, Kimata M, Kishi N, Fujimaki T, et al. Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin 43. .J Dent Res. 2012;91(7):38S-44S.
  • 12. Itro A, Marra A, Urciuolo V, Difalco P, Amodio A Oculodentodigital dysplasia. A case report. .Minerva Stomatol. 2005;54(7- 8):453-9.
Year 2022, Volume: 2 Issue: 1, 74 - 77, 29.04.2022

Abstract

References

  • 1. Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia: four new reports and a literature review. Arch. Ophthal. 97: 878- 884, 1979.
  • 2. Gutmann DH, Zackai EH, McDonald-McGinn, DM, Fischbeck KH, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am. J. Med. Genet. 1991;41: 18-20.
  • 3. Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. Clin. Genet. 2013;84: 378-381.
  • 4. De Bock M, Kerrebrouck M, Wang N, Leybaert L. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? Front. Pharm. 2013;4: 120.
  • 5. Hadjichristou C, Christophidou-Anastasiadou V, Bakopoulou A, Tanteles GA, Loizidou MA, Kyriacou K, et al. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations. .Int J Prosthodont. 2017 ;30(3):280–285.
  • 6. Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M, Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. J Clin Pediatr Dent. 2009;33(4):337-41
  • 7. Fenwick A, Richardson RJ, Butterworth J, Barron MJ, Dixon MJ Novel mutations in GJA1 cause oculodentodigital syndrome. .J Dent Res. 2008 ;87(11):1021-6.
  • 8 Jensen ED. Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case. BMJ Case Rep. 2021;14(1):e238079..
  • 9. Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z. Dental management of oculodentodigital dysplasia: a case report. J Oral Sci. 2010;52(2):337-42.
  • 10. Kayalvizhi G, Subramaniyan B, Suganya G. Clinical manifestations of oculodentodigital dysplasia. J Indian Soc Pedod Prev Dent. 2014;32(4):350-2.
  • 11. Amano K, Ishiguchi M, Aikawa T, Kimata M, Kishi N, Fujimaki T, et al. Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin 43. .J Dent Res. 2012;91(7):38S-44S.
  • 12. Itro A, Marra A, Urciuolo V, Difalco P, Amodio A Oculodentodigital dysplasia. A case report. .Minerva Stomatol. 2005;54(7- 8):453-9.
There are 12 citations in total.

Details

Primary Language English
Subjects Dentistry
Journal Section Case Reports
Authors

Pamela Armi This is me

Roberta D’avenia This is me

Cristina Villanacci This is me

Francisco Cammarata Scalisi This is me

Michele Callea This is me

Publication Date April 29, 2022
Published in Issue Year 2022 Volume: 2 Issue: 1

Cite

APA Armi, P., D’avenia, R., Villanacci, C., Scalisi, F. C., et al. (2022). Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRU International Journal of Dentistry and Oral Research, 2(1), 74-77.
AMA Armi P, D’avenia R, Villanacci C, Scalisi FC, Callea M. Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRU Int J Dent Oral Res. April 2022;2(1):74-77.
Chicago Armi, Pamela, Roberta D’avenia, Cristina Villanacci, Francisco Cammarata Scalisi, and Michele Callea. “Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case”. HRU International Journal of Dentistry and Oral Research 2, no. 1 (April 2022): 74-77.
EndNote Armi P, D’avenia R, Villanacci C, Scalisi FC, Callea M (April 1, 2022) Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRU International Journal of Dentistry and Oral Research 2 1 74–77.
IEEE P. Armi, R. D’avenia, C. Villanacci, F. C. Scalisi, and M. Callea, “Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case”, HRU Int J Dent Oral Res, vol. 2, no. 1, pp. 74–77, 2022.
ISNAD Armi, Pamela et al. “Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case”. HRU International Journal of Dentistry and Oral Research 2/1 (April 2022), 74-77.
JAMA Armi P, D’avenia R, Villanacci C, Scalisi FC, Callea M. Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRU Int J Dent Oral Res. 2022;2:74–77.
MLA Armi, Pamela et al. “Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case”. HRU International Journal of Dentistry and Oral Research, vol. 2, no. 1, 2022, pp. 74-77.
Vancouver Armi P, D’avenia R, Villanacci C, Scalisi FC, Callea M. Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRU Int J Dent Oral Res. 2022;2(1):74-7.