CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

摘要

BackgroundCHARGE syndrome is a non‐random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and tracheo‐oesophageal fistula. Specific behavioural problems, including autistic‐like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome.