Department of Life Sciences, University of Coimbra, Calçada Martim de Freitas, 3000-456, Coimbra, Portugal.
Research Centre for Anthropology and Health, Department of Life Sciences, University of Coimbra, Calçada Martim de Freitas, 3000-456, Coimbra, Portugal.
Int J Legal Med. 2024 Jan;138(1):249-258. doi: 10.1007/s00414-023-03066-2. Epub 2023 Jul 31.
Spina bifida (SB), a rare congenital disorder, is often mentioned as an individualizing factor in Forensic Anthropology. A lack of empirical data regarding SB is noticed in the scientific literature. Moreover, within the scope of anthropological research on SB disparities in terminology, classification systems, and methodological approaches result in incomparable results. The wide range (1,2%-50%) of "spina bifida occulta" reported prevalences is a good example. This research aims to analyze and debate the standard diagnostic criteria of SB on human skeletal remains, and attempts to elaborate on an universal system, premised on the distinction between SB as a pathology, and cleft neural arch (CNA) as an anatomical variant, according to Barnes (1994, p. 360 [1). A study-base of 209 individuals (88 males; 121 females; 44-99 years old) from the 21st Century Identified Skeletal Collection from the University of Coimbra (CEI/XXI) was macroscopically analyzed, focusing on the sacrum and remaining vertebrae. Four individuals presented complete posterior opening of the sacral canal (2,6%[4/156]). The observed bone changes, combined with the analysis of the entire skeleton, indicate that CNA, rather than SB linked to a neural tube defect, is the most reliable explanation for these cases. Overall, CNA was observed on 11 skeletons (7.05% of 156). The viability and applicability of the developed methodology for the identification of SB/CNA in forensic and/or osteological contexts are discussed, as well as the possibility of a lower prevalence of SB occulta, in the general population, than speculated before. HIGHLIGHTS: • Spina bifida has been studied so far under different methodologies, classification systems and nomenclature, leading to unstandardized and incomparable data. • Spina bifida as a pathological manifestation of a neural tube defect, as opposed to cleft neural arch as a simple form of skeletal variation. • Both spina bifida and complete sacral cleft fit the criteria of an individualizing trait in Forensic Anthropology.
脊柱裂（SB）是一种罕见的先天性疾病，常被法医人类学作为个体特征提及。然而，在科学文献中，人们注意到有关 SB 的经验数据不足。此外，在人类学对 SB 的研究中，术语、分类系统和方法学方法的差异导致了不可比的结果。报告的“隐性脊柱裂”患病率范围很广（1%至 50%）就是一个很好的例子。本研究旨在分析和辩论人类骨骼遗骸上 SB 的标准诊断标准，并尝试根据 Barnes（1994，第 360 页[1]）提出的 SB 作为病理学和神经弓裂（CNA）作为解剖变异之间的区别，制定一个通用系统。本研究以科英布拉大学 21 世纪身份识别骨骼收藏（CEI/XXI）中的 209 名个体（88 名男性；121 名女性；年龄 44-99 岁）为研究基础，对其进行了宏观分析，重点关注骶骨和剩余的椎骨。有 4 名个体的骶骨管完全后向开放（2.6%[4/156]）。观察到的骨骼变化，结合对整个骨骼的分析，表明 CNA 而不是与神经管缺陷相关的 SB，是这些病例最可靠的解释。总的来说，在 11 具骨骼（156 具中的 7.05%）上观察到了 CNA。本文讨论了在法医和/或骨骼背景下识别 SB/CNA 的方法的可行性和适用性，以及在普通人群中隐性脊柱裂的发病率可能低于之前推测的可能性。要点：
迄今为止，脊柱裂已在不同的方法学、分类系统和命名法下进行了研究，导致数据不标准且不可比。
将脊柱裂作为神经管缺陷的病理性表现，而不是神经弓裂作为简单的骨骼变异形式。
脊柱裂和完全骶骨裂都符合法医人类学中个体特征的标准。
