Syndromic choanal atresia: The example of CHARGE Syndrome

INTRODUCTION –––––––––––––––––––––––– First described in 1979 by Hall and Hittner et al, CHARGE syndrome was initially defined as a non-random association of anomalies. The acronym CHARGE stands for the major features of this syndrome: Coloboma, Heart defects, Choanal Atresia., growth retardation, Genital hypoplasia and Ear anomalies and/or deafness [1]. The CHARGE syndrome is considered to be a recognizable syndrome with genetic basis. Its phenotype may be related to CHD7 gene mutations [2]. Choanal atresia is one of the four major diagnostic criteria of this syndrome. Main differential diagnoses are the VACTERL association, DiGeorge sequence, 22q11 micro deletion, PAX2 abnormalities and retinoic acid embryopathy. This syndrome has a poor prognosis which depends mainly on cardiac and respiratory diseases. The best treatment is prevention through genetic counseling and antenatal diagnosis.