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Okulodentodigitale Dysplasie

Ein Fallbericht

Oculodentodigital dysplasia. A case report

  • Schwerpunktthema: Zahnentwicklung und Zahnanomalien in der Humangenetik
  • Published:
medizinische genetik

Zusammenfassung

Die seltene Erkrankung okulodentodigitale Dysplasie (ODDD), die in der Regel autosomal-dominant vererbt wird, ist charakterisiert durch Veränderungen der Augen, Zähne und der Finger und geht auf eine Mutation des GJA1-Gens zurück. Im Hinblick auf die Zahnveränderungen ist ein früher Zeitpunkt für Beurteilung und Behandlung von entscheidender Bedeutung. Im vorliegenden Fallbericht wird dargestellt, dass an verschiedenen Zähnen unterschiedlich stark ausgeprägte Veränderungen erkennbar werden können. Dies könnte erklären, dass in der Literatur die Zahnveränderungen bei ODDD so unterschiedlich beschrieben werden.

Abstract

Oculodentodigital dysplasia (ODDD), a rare inherited autosomal dominant disorder, characterized by developmental abnormalities of the eyes, teeth and digits, has been linked to mutations in the GJA1 gene. Regarding tooth abnormalities an early evaluation and treatment of the enamel is of crucial importance. It is unclear whether different descriptions of enamel defects in ODDD are due to actual different dental symptoms or just correlate of different stages of secondary damage.

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Literatur

  1. Boyadjiev SA, Chowdry AB, Shapiro RE et al. (2002) Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenet Genome Res 98: 29–37

    Article  CAS  Google Scholar 

  2. Dean JA, Jones JE, Vash BW (1986) Dental management of oculodentodigital dysplasia: report of case. ASDC J Dent Child 53: 131–134

    CAS  PubMed  Google Scholar 

  3. Farman AG, Smith SN, Nortje CJ (1977) Oculodentodigital dysplasia. Br Dent J 142: 405–408

    Article  CAS  Google Scholar 

  4. Frasson M, Calixto N, Cronenberger S (2004) Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet 25: 227–236

    Article  Google Scholar 

  5. Gutmann DH, Zackai EH, McDonald-McGinn DM et al. (1991) Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 41: 18–20

    Article  CAS  Google Scholar 

  6. Itro AA, Marra A, Urciolo V et al. (2005) Oculodentodigital dysplasia. A case report. Minerva Stomatol 54: 453–459

    CAS  PubMed  Google Scholar 

  7. Jälevik B, Fasth A, Dahllöf G et al. (2002) Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation. Bone Marrow Transplant 29: 537–540

    Article  Google Scholar 

  8. Joss SK, Ghazawy S, Tomkins S et al. (2007) Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr: Epub ahead of print

    Google Scholar 

  9. Koch MJ, Garcia-Godoy F (2000) The clinical performance of laboratory-fabricated crowns placed on first permanent molars with developmental defects. J Am Dent Assoc 131: 1285–1290

    Article  CAS  Google Scholar 

  10. McLachlan E, Manias JL, Gong XO et al. (2005) Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. Cell Commun Adhes 12: 279–292

    Article  CAS  Google Scholar 

  11. Paznekas WA, Boyadjiev SA, Shapiro RE et al. (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408–418

    Article  CAS  Google Scholar 

  12. Richardson RJ, Joss S, Tomkin S et al. (2006) A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J Med Genet 43: e37

    Article  CAS  Google Scholar 

  13. Scheutzel P (1991) Oculodentodigital syndrome: report of a case. Dentomaxillofac Radiol 20: 175–178

    Article  CAS  Google Scholar 

  14. Seow WK (1995) Dental development in amelogenesis imperfecta: a controlled study. Pediatr Dent 17: 26–30

    CAS  PubMed  Google Scholar 

  15. Thomsen M, Schneider U, Weber M et al. (1998) The different appearance of the oculodentodigital dysplasia syndrome. J Pediatr Orthop B 7: 23–26

    Article  CAS  Google Scholar 

  16. Van Es RJ, Wittebol-Post D, Beemer FA (2007) 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: 858–860

    Article  Google Scholar 

  17. Vasconcellos JP, Melo MB, Schimiti RB et al. (2005) A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Arch Ophthalmol 123: 1422–1426

    Article  CAS  Google Scholar 

  18. Wiest T, Herrmann O, Stögbauer F et al. (2006) Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet 70: 71–72

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Klinik für Neurologie, Universitätsklinikum, Heidelberg, Deutschland

    T. Wiest & C. Grond-Ginsbach

  2. Poliklinik für Zahnerhaltungskunde, MZK-Klinik des Universitätsklinikums, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland

    M.J. Koch

Authors
  1. T. Wiest
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  2. C. Grond-Ginsbach
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  3. M.J. Koch
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Correspondence to M.J. Koch.

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Wiest, T., Grond-Ginsbach, C. & Koch, M. Okulodentodigitale Dysplasie. medgen 19, 427–431 (2007). https://doi.org/10.1007/s11825-007-0054-y

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  • DOI: https://doi.org/10.1007/s11825-007-0054-y

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