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Okulodentodigitale Dysplasie

Ein Fallbericht

Oculodentodigital dysplasia. A case report

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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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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Schlüsselwörter

  • Okulodentodigitale Dysplasie (ODDD)
  • GJA1-Gen
  • Zahnschmelz
  • Zahnveränderungen

Keywords

  • Oculodentodigital dysplasia (ODDD)
  • GJA1 gene
  • Enamel
  • Dental abnormalities