2013, Cilt 26, Sayı 1, Sayfa(lar) 039-042
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A 2-month-old baby with CHARGE syndrome
1Pediatrics, Kartal Koşuyolu Research and Training Hospital, İstanbul, Turkey
2Pediatric Cardiology, Kartal Koşuyolu Research and Training Hospital,İstanbul, Turkey
Anahtar Kelimeler: Congenital, Multiple anomalies, CHARGE

CHARGE is a rare syndrome characterized by association of pathogenetically related multiple congenital anomalies with six main clinical features. In this case report, we present a 2-month-old female baby admitted to our hospital for surgical correction of her congenital heart anomalies (aortic coarctation, bicuspid aortic valve and patent ductus arteriosus). In addition, she had bilateral optic disc and choroid colobomas, operated bilateral choanal atresia, right facial nerve paralysis, ear anomaly and growth retardation to make the diagnosis of CHARGE syndrome. As children with CHARGE require multiple surgical corrections and the risk of congenital anomalies increases in subsequent pregnancies, it is important to recognize and inform the family about this syndrome as soon as possible. Early interventions for correction of accompanying congenital anomalies like choanal atresia can be life saving. Therefore, we wanted to highlight CHARGE syndrome and review the relevant literature.

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