摘要
To the Editor：Cornelia de Lange syndrome （CdLS,OMIM # 122470）,also called Brachmann-de Lange syndrome,is a serious genetic disease with unknown exact incidence.The estimated prevalence varies with a reported 1：10,000 individuals in the United States and 1：50,000 in Denmark.It may be underestimated because ofunderdiagnosis of mild phenotype.CdLS patients have a distinguishing facial appearance,namely synophrys joining at the midline and with an arched appearance of the eyebrows,thick,and long eyelashes,extending down to the bridge of the nose,long prominent philtrum with down-turned lip comers short and flattened nose,hirsute forehead,and cutis marmorata.Besides,prenatal/postpartum growth retardation,cognitive impairment,psychomotor delay,and behavioral problems such as repetitive and self-injurious behaviors are also remarkable in CdLS patients.
To the Editor：Cornelia de Lange syndrome （CdLS,OMIM # 122470）,also called Brachmann-de Lange syndrome,is a serious genetic disease with unknown exact incidence.The estimated prevalence varies with a reported 1：10,000 individuals in the United States and 1：50,000 in Denmark.It may be underestimated because ofunderdiagnosis of mild phenotype.CdLS patients have a distinguishing facial appearance,namely synophrys joining at the midline and with an arched appearance of the eyebrows,thick,and long eyelashes,extending down to the bridge of the nose,long prominent philtrum with down-turned lip comers short and flattened nose,hirsute forehead,and cutis marmorata.Besides,prenatal/postpartum growth retardation,cognitive impairment,psychomotor delay,and behavioral problems such as repetitive and self-injurious behaviors are also remarkable in CdLS patients.
