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Waardenburg anoftalmi sendromu

Kalıtsal - AD/AR

Waardenburg nöral krest sendromu fenotipi

Gelişme geriliği

Alın belirgin

Anoftalmi

Burun kısa ve düz

Kulaklar arkada/aşağıda

Belirgin filtrum

Retrognati

Çukur damak

Yarık dudak

Yarık damak

Kalça çıkığı

İskelet sistemi anomalileri

Zeka geriliği

 

  • Saylı, BS, Akarsu AN, Altan S. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. American Journal of Medical Genetics, 58: 18-20, 1995

  • Suyugül Z, Seven M, Hacihanefioglu S, et al. Anophthalmia-Waardenburg syndrome: a report of three cases. American Journal of Medical Genetics, 62: 391-397, 1996

  • Tekin M, Tutar E, Arsan S, et al. Ophthalmo-acromelic syndrome: report and review. American Journal of Medical Genetics, 90: 150-154, 2000

  • Cogulu O, Özkınay F, Gündüz C, et al. Waardenburg anophthalmia syndrome: report and review. (Letter) American Journal of Medical Genetics,  90: 173-174, 2000

  • Okada I, Hamanoue H, Terada K, et al. SMOC1 is essential for ocular and limb development in humans and mice. American Journal of Human Genetics, 88: 30-41, 2011