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Pediatria pre prax 3/2017
What is behind Nikolas‘ choan atresia and other abnormalities?
CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. Case report presents a story about a nine month old child with CHARGE syndrome and choan atresia, skin and bone defect in parietal region and hypacusis. The case report highlights the development of diagnostical criteria for precize diagnosis and a management of the syndrome.
Keywords: CHARGE syndrome, CHD7 gene
