Fig. 1

Distribution of AVCD with and without Down syndome modified by Digilio, M.C.; Marino, B.;Toscano, A.; Giannotti, A.; Dallapiccola, B. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet. 1999 Jul 16;85(2):140–6. (a) Mendelian Disorders: Noonan, Ellis-van Crevels, VACTERL, Oro-facio-digital II, Smith-Lemli-Opitz, DiGeorge,Bardet-Biedl, CHARGE. (b) Extracardiac malformations: Facial anomalies,dental anomalies, skeletal anomalies,gastrointestinal anomalies, glaucoma, mental retardation, (c) Chromosome imbalance: del 8 p21-pter; del 8 p23-pter; del 8 p21-p23;del4 q31-q32; 47, XX, + 18; 47, XY,+ 9;45,X