The modality of inheritance in CHARGE syndrome is autosomal dominant, classically triggered by mutations the chromo-domain helicase DNA binding protein-7 (CHD7) gene. characterized variable occurrence coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies deafness. In this report, we describe an infant with a typical phenotype severe psychom...

The CHARGE association We read with interest the proposal of a new autosomal recessive syndrome by Hurst etal Med Genet 1989;26:407-9) based on the description of two sibs with ASD, VSD, developmental delay, poor growth, microcephaly, low set, posteriorly rotated ears, and other dysmorphic features. The brother had choanal stenosis and the sister was also suspected to have choanal stenosis, but...