CAJ | 학술논문

目的探讨Cornelia de Lange综合征(CdLS)的临床特点及研究进展.方法报道白诊新生儿CdLS1例,总结分析17例国内CdLS的临床特点,对国外开展CdLS临床研究和分子生物学研究进展进行文献复习.结果 (1)自诊患儿存在宫内生长迟缓,出生时为足月小样儿,具有特殊外貌,合并四肢畸形和心脏动脉导管未闭,存在明显喂养困难,体重增长缓慢,随访至4个月,有明显生长发育落后.(2)既往国内已报告的病例共17例,男女比例为6∶12,平均确诊年龄为17月龄.患儿具有特殊外貌特征,主要包括连眉、睫毛长且卷曲、毛发浓密、发际低、小头、鼻梁扁平、人中浅长、腭弓高等,绝大多数患儿合并智力发育低下、反复呕吐或喂养困难、肌张力异常、大理石样皮肤、指骨异常及生殖器异常等,临床表现与国外报道相似.15例接受了染色体核型检查,均正常.CdLS病因不详,目前已识别的致病基因是NIPBL、SMCIA和SMC3基因.本病无特效治疗手段.最常见的死因是食道反流／误吸导致的肺炎等肺部疾病.结论 CdLS典型临床表现包括特殊外貌(主要为连眉浓眉,长睫毛,人中浅长等),合并多系统异常(主要为生长发育落后,胃食道反流,肢端骨骼异常等),相关的基因突变为NIPBL、SMCIA和SMC3基因.
목적 탐토Cornelia de Lange종합정(CdLS)적림상특점급연구진전.방법 보도백진신생인CdLS1례,총결분석17례국내CdLS적림상특점,대국외개전CdLS림상연구화분자생물학연구진전진행문헌복습.결과 (1)자진환인존재궁내생장지완,출생시위족월소양인,구유특수외모,합병사지기형화심장동맥도관미폐,존재명현위양곤난,체중증장완만,수방지4개월,유명현생장발육락후.(2)기왕국내이보고적병례공17례,남녀비례위6∶12,평균학진년령위17월령.환인구유특수외모특정,주요포괄련미、첩모장차권곡、모발농밀、발제저、소두、비량편평、인중천장、악궁고등,절대다수환인합병지력발육저하、반복구토혹위양곤난、기장력이상、대리석양피부、지골이상급생식기이상등,림상표현여국외보도상사.15례접수료염색체핵형검사,균정상.CdLS병인불상,목전이식별적치병기인시NIPBL、SMCIA화SMC3기인.본병무특효치료수단.최상견적사인시식도반류／오흡도치적폐염등폐부질병.결론 CdLS전형림상표현포괄특수외모(주요위련미농미,장첩모,인중천장등),합병다계통이상(주요위생장발육락후,위식도반류,지단골격이상등),상관적기인돌변위NIPBL、SMCIA화SMC3기인.
Objective To explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research re ports.Method Clinical and laboratory data of one case of neonatal CdLS are reported,and literature on 17 cases of CdlS in China and the international reports of the clinical and molecular biological research on this disease were reviewed.Result ( 1 ) The patient was an infant with intrauterine growth retardation and born as a term small for gestational age infant with specific facial features,tone abnormality of extremities,and patent ductus arteriosus ( PDA ).She also had severe feeding difficnlty and slow weight gain.She was followed up till 4 months of age and showed severe developmental retardation.(2) The total number of past reported case of CdLS in China was 17 with a male to female ratio of 6∶12.The average age of diagnosis was 17 months.The following specific facial features could be observed:synophrys,long and curved eyelashes,hirsutism,microcephalus,low hairline,broad depressed nasal bridge,long prominent philtrum,and high palate.Most of the patients were complicated with mental retarlation,recurrent vomiting or feeding difficulty,abnormal muscle tone,curis marmorata,hypophalangism,and genitalia anomaly.Clinical manifestations of Chinese patients were similar to those of the overseas reports.The karyotype of 15 cases was investigated and was normal.The etiology of CdLS is unknown.There is no speific treatment.The commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.Conclusion Typical clinical manifestations of CdLS are specific facial features (mainly synophrys,long and curved eyelashes,long prominent philtrum ),complications of multi-system malformations ( mainly growth and developmental retardation,esophagogastric reflex,hypophalangism ),related gene mutations occurred in NIPBL,SMCIA,and SMC3 gene.