One Case Of Cornelia De Lange Syndrome And Literature Review

Objective: To explore the clinical characteristics of Cornelia de Lange Syndrome(CdLS)and to review the latest clinical research reports.Methods: One case of neonatal CdLS was reported,and the literature review was carried out on the clinical research,case reports and molecular biology of CdLS at home and abroad.Results: 1.The patient was an infant with intrauterine growth retardation.At birth,the child was smaller than the gestational age,and had a distinctive facial appearance.Meanwhile,it was difficult for the child to be feed,and there was repeated cough and slow weight gain.2.The existing domestic case reports on CdLS showed that the children had special features such as small head,hirsutism,synophrys and so on.Most of the patients who had CdLS were complicated with mental retardation,recurrent vomiting or feeding difficulty,abnormal muscle tone and genitalia anomaly.Clinical manifestations of Chinese patients were similar to those of the overseas reports.3.The etiology of Cd LS is unknown and the pathogenic genes identified so far are related to NIPBL,RAD21,HDAC8,SMC1 A and SMC3 genes,of which NIPBL gene is more common.This case is the heterozygous mutation of this gene.4.There is no specific treatment.And the commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.Conclusion: Cd LS is a multiple congenital dysplasia syndrome.Typical clinical features of CdLS are specific facial features(mainly synophrys,hirsutism,long prominent phihrum and so on),intrauterine growth retardation and complications of multi-system malformations.Mutations associated with CdLS are NIPBL,RAD21,HDAC8,SMC1 A and SMC3 genes.At present,there is no effective treatment for CdLS.Therefore,prenatal screening diagnosis during pregnancy and prenatal and postnatal care are particularlyimportant in reducing the incidence of CdLS.