A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome

Cornelia de Lange syndrome （CdLS; OMIM： 122470） is characterized by distinctive facial features, growthretardation, hirsutism, and upper limb reduction defects. Craniofacial features manifest as synophrys, arched eyebrows, long thick eyelashes, a small upturned nose, small widely-spaced teeth, and microcephaly. The intelligence quotient （IQ） is usually below the normal level. More phenotypes are frequently found, such as cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.