Z

 

Zlotogora-Ogur sendromu (cleft lip/palate-ectodermal dysplasia sendromu; OFC7)

Kalıtsal - AR

Orofasiyal yarıklar/ektodermal displaziler kümesi fenotipi

Kaşlar-kirpikler-saçlar seyrek

Üçgensi yüz

Filtrum yapısı garip

Yarık dudak

Yarık damak

Hipodonti

Oligodonti

Anodonti

Mikrodonti

Sindaktili

Palmoplantar hiperkeratoz

 

  • Zlotogora J, Zilberman Y, Tenenbaum A, Wexler MR. Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? Journal of Medical Genetics, 24: 291-293, 1987

  • Ogur G, Yüksel M. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. Journal of Medical Genetics, 25: 37-40, 1988

  • Suzuki K, Hu D, Bustos T, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nature Genetics, 25: 427-430, 2000

  • Sözen MA, Suzuki K, Tolarova MM, et al. Mutation of PVRL1 is associated with spontan, non-syndromic cleft lip/palate in northern Venezuela. Nature Genetics, 29: 141-142, 2001