[Molecular diagnosis of CHARGE syndrom]

Abstract

CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value.