Elschnig sendromu | BCD sendromu | blepharocheliodontic |

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

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
Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006
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
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
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
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