Pamela ARMİ, Roberta D’AVENİA, Cristina VİLLANACCİ, Francisco Cammarata SCALİSİ, Michele CALLEA

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

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.

Keywords:

Oculo-dento-digital dysplasia, hypoplastic enamel, cutaneous syndactyly,

PDF

___

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.