吉林大学学报（医学版）2025，Vol.51Issue(2)：501-507,7.DOI:10.13481/j.1671-587X.20250225
Cornelia de Lange综合征患者临床特征及其遗传学分析2例报告及文献复习
Clinical characteristics and genetic analysis of patients with Cornelia de Lange syndrome:A report of 2 cases and literature review
摘要
Abstract
Cornelia de Lange syndrome is a rare congenital malformation disease,and its typical features include growth restriction,mental retardation,craniofacial abnormality and hirsutism.This study reported 2 cases of CdLS patients,summarized their clinical manifestations and gene mutation characteristics,and the relevant literatures were reviewed.Patient 1,a 5-year-old girl,was admitted to the hospital due to growth retardation.Physical examination revealed hirsutism,monobrow,small and sparse teeth,hemangiomas(approximately 2 cm×2 cm)on the chest and back,delayed language development,and intellectual disability.The height was 98 cm[≤-2 standard deviation(SD)],the weight was 15 kg(-2SD--1SD),the head circumference was 46 cm(-3SD--2SD).Brain magnetic resonance imaging(MRI)plain scan showed slightly enlarged left lateral ventricle and bilateral lateral ventricle triangles,slightly thickened bilateral maxillary sinus and ethmoid sinus mucosa.Echocardiography revealed mild regurgitation of the mitral and tricuspid valves.Patient 2,a 1-month-old girl,was admitted to the hospital due to postpartum shortness of breath.The physical examination highlighted hirsutism,short nose,soft cleft palate,dysphagia,positive three-concave sign,audible throat sound,small hands,palm penetration in the left hand,short fifth finger of the right hand,limited right hip abduction,foot varus,and a white spot at the bottom of the right eye.Ultrasonography at 1 month showed mild regurgitation of the tricuspid valve and an open foramen ovale.Brain MRI at 2 d showed a few patchy low-signal shadows in the longitudinal fissure cistern and tentorium,a small amount of subarachnoid hemorrhage,and a small amount of fluid in the bilateral maxillary sinus,ethmoid sinus,and middle ear mastoid.No obvious structural or numerical abnormalities were observed in the chromosome karyotypes.Whole-exome sequencing detected a heterozygous variation of c.6653_6655del in the NIPBL gene in patient 1 and a heterozygous variation of c.337C＞T in the NIPBL gene in patient 2.These variations were not found in their parents.The study revealed that NIPBL gene variation could be the genetic cause of the two patients with CdLS.The identification of the variation c.337C＞T may expand the variation spectrum of the NIPBL gene,providing valuable insights into the pathogenic genetic basis of CdLS.关键词
Cornelia de Lange综合征/NIPBL基因/基因变异/变异谱系Key words
Cornelia de Lange syndrome/NIPBL gene/Gene variation/Variation spectrum分类
医药卫生引用本文复制引用
蔡美娇,陈佳燕,马小敏,黄燕茹,张剑,葛运生..Cornelia de Lange综合征患者临床特征及其遗传学分析2例报告及文献复习[J].吉林大学学报（医学版）,2025,51(2):501-507,7.基金项目
国家自然科学基金青年基金项目(82101955) （82101955）
福建省科技厅自然科学基金创新青年项目(2023J05269) （2023J05269）
福建省卫健委卫生健康科技计划项目(2020GGB064) （2020GGB064）
福建省厦门市科技局医疗卫生指导性项目(3502Z20224ZD1228) （3502Z20224ZD1228）
