ABSTRACT
CHARGE association consists of a combination of choanal atresia, colobomas, heart abnormalities, growth restriction, and neurodevelopmental handicap. Many of these, apart from cardiac abnormalities, are very difficult to detect on prenatal ultrasound scan. Asymmetry of structures can sometimes be seen in CHARGE association. Although the inheritance is thought to be autosomal dominant, many cases are due to sporadic new mutations. Most cases are sporadic and result from a deletion of chromosome 22q11.2. However, autosomal dominant inheritance is known. Mild to moderate learning difficulties are common. Treacher–Collins syndrome is also called mandibulofacial dysostosis. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, cleft palate, microtia, hypoplastic zygomatic arches, and macrostomia. Apart from micrognathia, the other features are difficult to detect on pre-natal ultrasound. This is an autosomal dominant disorder with variable expression.
