%0 Journal Article
%T S¨ªndrome branquio-¨®culo-facial (BOFS) e cardiopatias cong¨ºnitas
%A Rosa
%A Rafael Fabiano Machado
%A Zen
%A Paulo Ricardo Gazzola
%A Graziadio
%A Carla
%A Paskulin
%A Giorgio Adriano
%J Arquivos Brasileiros de Cardiologia
%D 2009
%I Sociedade Brasileira de Cardiologia - SBC
%R 10.1590/S0066-782X2009000200015
%X 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.
%K oto-renal-syndrome
%K heart defects
%K congenital.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0066-782X2009000200015&lng=en&nrm=iso&tlng=en