Plessis Anneli M Du, Wessels Quenton, Schoor Albert Van, Keough Natalie
Department of Anatomy, Health Science Campus, University of Pretoria, South Africa.
Department Anatomy, School of Medicine, University of Namibia, Windhoek, Namibia.
Anat Cell Biol. 2022 Dec 31;55(4):399-405. doi: 10.5115/acb.22.062. Epub 2022 Sep 8.
Cases of associations between random spinal congenital defects have previously been reported, yet several questions remain unanswered. Firstly, why are associations between what seems to be random combinations of vertebral malformations observed? Secondly, is there a common event or pattern that connects the associated defects? Therefore, this study aimed to identify congenital defects in the vertebral column and also to determine whether any associations, if present, between vertebral malformations exist. This article consequently discusses the possible embryological disruptions that may lead to the formation of various defects in the vertebral column. A random skeletal sample (n=187) was selected from the Pretoria Bone Collection housed in the Department of Anatomy, University of Pretoria (Ethics 678/2018). The sample was evaluated to determine the frequencies of spinal congenital defects in each set of remains. Identifiable congenital malformations were observed in 48.1% (n=90/187) of the sample. The results demonstrated a high probability of association between the different defects observed in the vertebral column. Findings are of value as they provide a reasonable explanation to why seemingly random cases of associations have been reported by several authors. This study is clinically relevant as severe spinal defects have been shown to have high morbidity in patients and mortality in infants.
此前已有关于随机脊柱先天性缺陷之间关联的病例报道,但仍有几个问题未得到解答。首先,为什么会观察到看似随机组合的椎体畸形之间存在关联?其次,是否存在一个共同的事件或模式将相关缺陷联系起来?因此,本研究旨在识别脊柱中的先天性缺陷,并确定椎体畸形之间是否存在任何关联(如果存在的话)。本文因此讨论了可能导致脊柱形成各种缺陷的胚胎学干扰因素。从比勒陀利亚大学解剖学系保存的比勒陀利亚骨骼收藏中选取了一个随机骨骼样本(n = 187)(伦理批准号678/2018)。对该样本进行评估,以确定每组遗骸中脊柱先天性缺陷的频率。在48.1%(n = 90/187)的样本中观察到可识别的先天性畸形。结果表明,在脊柱中观察到的不同缺陷之间存在高度关联的可能性。这些发现具有价值,因为它们为几位作者报道的看似随机的关联病例提供了合理的解释。这项研究具有临床相关性,因为严重的脊柱缺陷已被证明在患者中具有高发病率,在婴儿中具有高死亡率。