Oostra Roelof-Jan, Boer Lucas, van der Merwe Alie E
Department of Anatomy, Embryology and Physiology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Department of Anatomy and Museum for Anatomy and Pathology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Clin Anat. 2016 Oct;29(7):878-91. doi: 10.1002/ca.22769. Epub 2016 Sep 7.
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected. Well- known skeletal dysplasias represented in the archeological record include osteogenesis imperfecta and achondroplasia. Dysostoses, in contrast, interfere with the building plan of the body, leading to e.g. missing or extraskeletal elements, but the histology of the skeletal tissues is unaffected. Dysostoses can concern the extremities (e.g., oligodactyly and polydactyly), the vertebral column (e.g., homeotic and meristic anomalies), or the craniofacial region. Conditions pertaining to the cranial sutures, i.e., craniosynostoses, can be either skeletal dysplasias or dysostoses. Congenital conditions that are not harmful to the individual are known as anatomical variations, several of which have a high and population-specific prevalence that could potentially make them useful for determining ethnic origins. In individual cases, specific congenital conditions could be determinative in establishing identity, provided that ante-mortem registration of those conditions was ensured. Clin. Anat. 29:878-891, 2016. © 2016 The Authors Clinical Anatomy published by Wiley Periodicals, Inc. on behalf of American Association of Clinical Anatomists.
大多数先天性疾病的发病率较低，但总体上它们在所有活产婴儿中的发生率为百分之几。先天性疾病在人类学研究中很少见，尤其是因为其中许多对骨骼没有明显影响。在这里，我们讨论两组特别影响骨骼的先天性疾病，无论是在质量上还是数量上。骨骼发育异常（骨软骨发育异常）会干扰骨骼组织的组织学形成、生长和成熟，导致姿势长度缩短，但身体的构建计划不受影响。考古记录中常见的骨骼发育异常包括成骨不全和软骨发育不全。相比之下，骨发育异常会干扰身体的构建计划，导致例如骨骼元素缺失或多余，但骨骼组织的组织学不受影响。骨发育异常可能涉及四肢（例如，少指畸形和多指畸形）、脊柱（例如，同源和分节异常）或颅面部区域。与颅缝相关的疾病，即颅缝早闭，可能是骨骼发育异常或骨发育异常。对个体无害的先天性疾病被称为解剖变异，其中一些具有很高的特定人群患病率，这可能使它们有助于确定种族起源。在个别情况下，如果确保对这些疾病进行生前登记，特定的先天性疾病可能对确定身份具有决定性作用。临床解剖学。2016年第29卷：878 - 891页。© 2016作者 临床解剖学由威利期刊公司代表美国临床解剖学家协会出版。
