Oculodentodigital sendrom (ODDD; oculodentoosseous dysplasia)

İleri yaş gebeliklerde spontan; Kalıtsal - AD

Mikrosefali

Kafatasında hiperostozis

Hipertelorizm

Mikroftalmi

Mikrokornea

Strabismus

Glokom

Katarakt

Kısa-dar göz kapakları

İnce-çıkıntılı burun sırtı

Otitis media

İşitme sorunları

Seyrek, kuru, kırılgan ve uzamayan saçlar

Alveol kretleri kalın

Mikrodonti

Oligodonti

Mine hipoplazisi

Yaygın çürükler

Yarık dudak

Yarık damak

Kardiyovasküler anomaliler

Kalça çıkığı

Parmak anomalileri

Nörolojik bulgular

 

  • Frasson M, Calixto N, Cronemberger S, et al. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genetics, 25(3):227-236, 2004

  • Debeer P, Van Esch H, Huysmans C, et al. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). European Journal of Medical Genetics, 48(4):377-387, 2005

  • Wiest T, Herrmann O, Stögbauer F, et al. Clinical and genetic variability of oculodentodigital dysplasia. Clinical Genetics, 70(1):71-72, 2006

  • Richardson RJ, Joss S, Tomkin S, et al. A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. Journal of Medical Genetics, 43: e37, 2006

  • Joss SK, Ghazawy S, Tomkins S, et al. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. European Journal of Pediatrics, 167(3):341-345, 2008

  • De Bock M, Kerrebrouck M, Wang N, Leybaert L. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? Frontiers in Pharmacology, 4: Article 120 (21 pages), 2013