Wolf-Hirschhorn综合征(Wolf-Hirschhorn syndrome,WHS)又称4号染色体短臂末端缺失综合征,是由于4号染色体短臂末端缺失而导致的一种罕见的染色体病[1],是一组由智力减低、癫痫、生长迟缓和颅面异常(“希腊头盔脸”)等核心特征组成的临床综合征。该病国内报道极少。现将大连市妇 Wolf-Hirschhorn syndrome (WHS), also known as chromosome 4 short-arm deletion syndrome, is a rare chromosomal disease caused by the deletion of the short arm of chromosome 4 [1] Clinical syndromes consist of core features such as mental retardation, epilepsy, growth retardation, and craniofacial abnormalities (“Greek helmet face”). The disease is rarely reported in the country. Now Dalian women