Yenidoğan Döneminde Bir CHARGE sendromu Olgusu

Öz

CHARGE sendromu 1/10.000-15.000 oranında görülen ve çok sayıda doğumsal anomalinin eşlik ettiği bir sendromdur. Yenidoğan yoğun bakım servisimize solunum sıkıntısı nedeni ile kabul edilen olguya, bilateral koanal stenoz, koroid kolobomu, kulak anomalisi, işitme kaybı, kalp ve böbrek anomalisi saptanması üzerine CHARGE sendromu tanısı konuldu. Olgu koanal atrezi saptanan yenidoğanlarda CHARGE sendromunun akla getirilmesi ve diğer organlara ait patolojilerin araştırılması gerektiği, erken tanı ve tedavi ile multidisipliner yaklaşımın öneminin vurgulanması amacıyla sunuldu.

Anahtar Kelimeler

• CHARGE sendromu, Koanal atrezi, Kolobom

A Case of CHARGE Syndrome in the Neonatal Period

Öz

The CHARGE syndrome, which has an incidence of 1/10.000-15.000, involves multiple congenital anomalies. A newborn infant admitted to our neonatal intensive care unit with respiratory distress was diagnosed with CHARGE syndrome due to the presence of multiple anomalies including bilateral choanal stenosis, choroidal coloboma, ear anomalies, hearing loss, heart and renal anomalies. The reason we report this patient is two-fold: fi rst to remind that CHARGE syndrome should be considered in infants with choanal atresia and other anomalies, and second to emphasize the importance of early diagnosis and a multidisciplinary approach in the treatment of patients with CHARGE syndrome

Anahtar Kelimeler

• CHARGE syndrome, Choanal atresia, Coloboma

Kaynakça

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