Síndrome branquio-óculo-facial (BOFS) e cardiopatias congênitas

we report the case of a 43-day-old boy with branchio-oculo-facial syndrome (bofs) and congenital heart defect. on clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia and decreased deep tendon reflexes. echocardiography showed the presence of a type-a complete atrioventricular septal defect and patent ductus arteriosus. this description strengthens the possibility of congenital heart defects being part of the spectrum of anomalies seen in bofs.