Elschnig sendromu
BCD sendromu
Blepharocheliodontic sendrom
Kalıtsal - AD
2 fenotip
Alın bombesi yüksek
Hipertelorizm
İri göz kapakları
Üst kapakta iki sıra kirpik
Alt kapakta ektropiyon
Lagoftalmi
Saçlar ve kaşlar seyrek
Yüz basık
Yarık dudak (bilateral)
Yarık damak
Kısa-dar maksilla
Oligodonti
Konik dişler
Hipodonti (üst kesici dişler, kaninler ve premolarlar eksik)
Taurodontism
Sindaktili
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Valdéz-de la Torre MH, Quintana-García M, Canun S. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. American Journal of Medical Genetics, 85(2):157-159, 1999
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Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006
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Gil da Silva Lopes VL, Guion-Almeida ML, de Oliveira Rodini ES. Blepharocheilodontic (BCD) syndrome: expanding the phenotype? American Journal of Medical Genetics, 121A: 266-270, 2003
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Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome American Journal of Medical Genetics,152A: 438-440, 2010
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Awadh W, Kiukkonen A, Nieminen P, et al. Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features. American Journal of Medical Genetics, 173A:905–913, 2017
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Ghoumid J, Stichelbout M, Jourdain A-S, et al. Blepharocheilodontic syndrome is a CDH1pathway–related disorder due to mutations in CDH1 and CTNND1. Genetics in Medicine, 19:1013–1021, 2017