Branchio-oculo-facial syndrome (BOFS) and congenital heart defects.
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.
Complexo Hospitalar Santa Casa de Porto Alegre, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brasil.
Rafael Fabiano Machado
RF
Rosa
Paulo Ricardo Gazzola
PR
Zen
Carla
C
Graziadio
Giorgio Adriano
GA
Paskulin
D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male