Fujishiro Emi, Suzuki Yoshikatsu, Sato Takeshi, Kondo Satoshi, Miyachi Masanao, Suzumori Kaoru
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Fetal Diagn Ther. 2004 Mar-Apr;19(2):134-7. doi: 10.1159/000075137.
The VACTERL [vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheal-esophageal fistula with esophageal atresia (TE), renal defects (R), and radial limb dysplasia (L)] association can sometimes be diagnosed by ultrasonography and magnetic resonance imaging (MRI). Although the preaxial limb anomalies on ultrasonography were strongly associated with VACTERL association, the rate of limb anomalies is low. On ultrasonography, useful findings for prenatal diagnosis are a combination of esophageal atresia with hydramnion and renal anomalies. If esophageal atresia cannot be detected due to masking, diagnosis may be very difficult. In this case report, we reported the VACTERL association along with duodenal atresia. The detection of characteristic findings (enlarged stomach and duodenum, possibly change in gallbladder) by use of ultrasonography and MRI might be useful for the prenatal diagnosis of such cases.
VACTERL(椎体缺陷(V)、肛门闭锁(A)、心脏异常(C)、食管闭锁合并气管食管瘘(TE)、肾脏缺陷(R)和桡骨肢体发育不良(L))综合征有时可通过超声检查和磁共振成像(MRI)进行诊断。尽管超声检查发现的轴前肢体异常与VACTERL综合征密切相关,但肢体异常的发生率较低。在超声检查中,产前诊断的有用发现是食管闭锁合并羊水过多和肾脏异常。如果由于遮盖而无法检测到食管闭锁,诊断可能会非常困难。在本病例报告中,我们报告了合并十二指肠闭锁的VACTERL综合征。通过超声检查和MRI检测特征性表现(胃和十二指肠扩张,胆囊可能发生变化)可能有助于此类病例的产前诊断。