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