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.
📌 3 Key Takeaways
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Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact: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.
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.
Armi, P., D’avenia, R., Villanacci, C., Scalisi, F. C., Callea, M. (2022). Oculo-Dento-Digital Dysplasia (Oddd), Report of a Case. HRÜ Uluslararası Diş Hekimliği ve Oral Araştırmalar Dergisi, Volume: 2 Issue: 1. https://ajindex.com/articles/1615824
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Itro A, Marra A, Urciuolo V, Difalco P, Amodio A Oculodentodigital dysplasia. A case report.Minerva Stomatol. 2005;54(7- 8):453-9.
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.
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.
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.
Itro A, Marra A, Urciuolo V, Difalco P, Amodio A Oculodentodigital dysplasia. A case report.Minerva Stomatol. 2005;54(7- 8):453-9.