Genetic Counseling, vol.20, no.4, pp.379-383, 2009 (SCI-Expanded)
Report of a girl with VACTERL syndrome and right pulmonary agenesis: VACTERL syndrome is a combination of vertebral anomalies (V), anal atresia (A), congenital heart defects (C), tracheo-esophageal fistula (T), esophageal atresia (E), abnormalities of kidneys (renal anomalies, R) and limbs (L). In the present patient right pulmonary agenesis is co-occurring with VACTERL syndrome. We report on this case because the association of right pulmonary agenesis and VACTERL syndrome is rare.