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 e...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.展开更多
基金This work was supported by the grants from the Natural Science Foundation of Zhejiang Province （No. Y2090108）, the Qianjiang Talent Program （No. 2010R10063） and the Scientific Research Foundation for the Return Overseas Chinese Scholars, State Education Ministry.
文摘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.
