Oto-renal-syndrome – ABC CARDIOL

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Case Report

Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

Rafael Fabiano Machado Rosa et al. Paulo Ricardo Gazzola Zen Carla Graziadio Giorgio Adriano Paskulin

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.

Heart Defects, Congenital
Oto-renal-syndrome

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Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

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