新生儿VACTERL联合征的临床与影像学表现

Clinical and imaging findings of VACTERL association in newborns

目的分析新生儿VACTERL联合征的临床表现及影像学特点,提高对本病的认识和诊断水平。方法选择2009年1月至2012年11月在本院放射科检查的食管闭锁和肛门闭锁患儿,按照VACTERL联合征的诊断标准,回顾X线影像资料,并分析患儿临床表现及影像学特点。结果研究期间在本院放射科进行检查的食管闭锁和肛门闭锁患儿共38例,其中4例食管闭锁患儿符合VACTERL联合征的诊断。1例食管闭锁并气管食管瘘、胸椎半椎畸形、右侧第11肋骨缺如、多指畸形;1例食管闭锁并先天性心脏病(房间隔缺损、动脉导管未闭)、右心房右心室扩大、双手拇指畸形;1例食管闭锁并气管食管瘘、双侧第13肋骨、脊柱裂、左肾积水、右肾缺如;1例食管闭锁并气管食管瘘、先天性心脏病(室间隔缺损、动脉导管未闭)、左手赘指畸形。结论新生儿VACTERL联合征临床和影像表现具有一定特点,临床和影像学检查结合可以做出该诊断。

Objective To analyze the clinical and radiological findings of VACTERL association in newborns and to improve the clinical recognition and diagnostic rate of this association.Methods This retrospective study analyzed clinical data of 24 neonates with esophageal atresia and 14 neonates with anal atresia from January 2009 to November 2012.Patients who met the diagnostic criteria of VACTERL association were identified,their clinical and imaging findings were analyzed.Results Four children met the diagnostic criteria of VACTERL association.Among them one patient had esophageal atresia with tracheoesophageal fistula,thoracic hemivertebrae,absent of right 11th rib and polydactyly; the second patient had anomalies with esophageal atresia,congenital cardiac anomalies （atrial septal defect and patent ductus arteriosus）,right atrial and ventricular enlargement,and polydactyly; the third case showed lesophageal atresia with tracheoesophageal fistula,bilateral supernumerary rib,spinal bifida,left hydronephrosis and absent right kidney; the last case was characterized by esophageal atresia with tracheoesophageal fistula,congenital cardiac anomalies：ventricular septal defect,patent ductus arteriosus and patent foramen ovale,left polydactyly.Conclusions VACTERL association can be diagnosed during neonatal period based on the clinical and imaging findings of patients.