Jamsheer Aleksander, Materna-Kiryluk Anna, Badura-Stronka Magdalena, Wiśniewska Katarzyna, Wieckowska Barbara, Mejnartowicz Jan, Balcar-Boroń Anna, Borszewska-Kornacka Maria, Czerwionka-Szaflarska Mieczysława, Gajewska Elzbieta, Godula-Stuglik Urszula, Krawczynski Marian, Limon Janusz, Rusin Józef, Sawulicka-Oleszczuk Henryka, Szwałkiewicz-Warowicka Ewa, Swietliński Janusz, Walczak Mieczysław, Latos-Bieleńska Anna
Center for Medical Genetics, Department of Medical Genetics, University of Medical Sciences in Poznań, ul. Grunwaldzka 55, Poznań, Poland.
Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):211-5. doi: 10.1002/bdra.20555.
Amniotic rupture sequence (ARS) is a disruption sequence presenting with fibrous bands, possibly emerging as a result of amniotic tear in the first trimester of gestation. Our comparative study aims to assess whether there is a difference in the clinical pattern of congenital limb and internal organ anomalies between ARS with body wall defect (ARS-BWD) and ARS without BWD (ARS-L).
Among 1,706,639 births recorded between 1998 and 2006, 50 infants with a diagnosis of ARS were reported to the Polish Registry of Congenital Malformations. The information on 3 infants was incomplete, thus only 47 cases were analyzed. These infants were classified into groups of ARS-L (38 infants) and ARS-BWD (9 infants).
The ARS-BWD cases were more frequently affected by various congenital defects (overall p < 0.0001), and in particular by urogenital malformations (p = 0.003). In both groups, limb reduction defects occurred in approximately 80% of cases; however, minor and distal limb defects (phalangeal or digital amputation, pseudosyndactyly, constriction rings) predominated in the ARS-L group (p = 0.0008). The ARS-L group also had a higher frequency of hand and upper limb involvement.
This observation suggests that amniotic band adhesion in ARS-L takes place at a later development stage. Although limited by a small sample size, our study contributes to the growing evidence that both ARS entities represent two nosologically distinct conditions.
羊膜破裂序列征（ARS）是一种以纤维束带为特征的破坏序列征，可能由于妊娠早期羊膜撕裂所致。我们的对比研究旨在评估合并体壁缺损的羊膜破裂序列征（ARS-BWD）与不合并体壁缺损的羊膜破裂序列征（ARS-L）在先天性肢体和内脏器官畸形临床模式上是否存在差异。
在1998年至2006年记录的1,706,639例出生病例中，有50例诊断为ARS的婴儿被报告至波兰先天性畸形登记处。3例婴儿的信息不完整，因此仅分析了47例病例。这些婴儿被分为ARS-L组（38例婴儿）和ARS-BWD组（9例婴儿）。
ARS-BWD病例更常受到各种先天性缺陷的影响（总体p<0.0001），尤其是泌尿生殖系统畸形（p = 0.003）。在两组中，约80%的病例出现肢体减少缺陷；然而，ARS-L组以轻微和远端肢体缺陷（指骨或手指截肢、假性并指、缩窄环）为主（p = 0.0008）。ARS-L组手部和上肢受累的频率也更高。
该观察结果表明，ARS-L中的羊膜带粘连发生在发育后期。尽管受样本量小的限制，但我们的研究有助于越来越多的证据表明这两种ARS实体代表两种不同的疾病状态。
