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Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.

J J Blustajn, C F E CF Kirsch, A A Panigrahy, and I I Netchine

AJNR Am J Neuroradiol 29(7):1266-9 (2008) PMID 18417599

CHARGE syndrome is a genetic disorder resulting in the association of multiple congenital anomalies. Although a high prevalence of olfactory anomalies in CHARGE syndrome has been reported in autopsy and functional studies, to our knowledge, such anomalies have not been included among the diagnostic criteria, and their radiographic prevalence has not been assessed. The purpose of this research was to determine the radiographic prevalence of olfactory anomalies in a small sample of subjects with diagnosed CHARGE syndrome.

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