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  • Title: Branchio-oculo-facial syndrome (BOFS) and congenital heart defects.
    Author: Rosa RF, Zen PR, Graziadio C, Paskulin GA.
    Journal: Arq Bras Cardiol; 2009 Feb; 92(2):e6-8, e33-5. PubMed ID: 19360235.
    Abstract:
    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.
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