KaydedilenlerDerginizi ekleyin

Dergiler / HRÜ Uluslararası Diş Hekimliği ve Oral Araştırmalar Dergisi / 2026 / Volume: 2 Issue: 1

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

Pamela Armi(Meyer Children's University)
Roberta D’avenia(Meyer Children's University)
Cristina Villanacci(Meyer Children's University)
Francisco Cammarata Scalisi(Meyer Children's University)
Michele Callea(Pediatric Dentistry and Special Dental Care Unit, Meyer Children's University Hospita)
Sayfa
—
Yayın Tarihi
2022-04-29
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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 Maddede Bu Makale

🎯
Amaç & Hipotez: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.
📊
Temel Bulgular & Veri: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.
💡
Sonuç & Katkı: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.
🔬Tür:Case Report
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Oculo-dento-digital dysplasia · hypoplastic enamel · cutaneous syndactyly

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.

🔖

Bu Makaleye Atıf Yap

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

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (17)

  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. 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.
  13. 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.
  14. 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.
  15. 8 Jensen ED. Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case. BMJ Case Rep. 2021;14(1):e238079.
  16. 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.
  17. Itro A, Marra A, Urciuolo V, Difalco P, Amodio A Oculodentodigital dysplasia. A case report.Minerva Stomatol. 2005;54(7- 8):453-9.