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Weyers acrodental dysostosis (Curry-Hall sendromu; Weyers acrofacial dysostosis)

Kalıtsal - AD

Hipotelorizm 

Frenulum, çok sayıda

Mandibula simfiz yarığı

Tek orta kesici diş (hipodonti)

Mikrodonti

Kürek biçiminde dişler

Konik dişler

Tırnak anomalileri

Parmak anomalileri

Ellis-van Creveld sendromunun hafif bulgular içeren fenotipi

 

  • Howard TD, Guttmacher AE, McKinnon W, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. American Journal of Human Genetics, 61: 1405-1412, 1997

  • Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics, 24(3):283-286, 2000

  • Ye X, Song G, Fan M, et al. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Human Genetics, 119(1-2):199-205, 2006

  • Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(4):341-351, 2009

  • Valencia M, Lapunzina P, Lim D, et al. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30: 1667-1675, 2009

  • D'Asdia MC, Torrente I, Consoli F, et al. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. European Journal of Medical Genetics, 56: 80-87, 2013