Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts

Abstract

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.

Theodor Kerckring (1638–1693) and his contributions to describing fetal development and craniospinal malformations

“…Kerckring reported a variety of anatomical findings the purpose of this review paper is to bring to light his discoveries of fetal bone development and propel his translated writings to the scientific community as often, significant contributions from the past are forgotten by modern readers [2]. His illustrations and observations on the fetal skull base, rachischisis, and other congenital embryological derailments such as spinal lipomas were profound for their time.…”

A rare case of pancraniosynostosis observed in a historical skull from the 19 th century cranial collection named “Królestwo Polskie” (“Polish Kingdom”)

“…It should be noted that most shape anomalies can also result from other, non-suture-related conditions, most of which have a postnatal, exogenous cause (Oostra et al 2016). For instance, it has been proved that hypophosphatemic rickets is associated with synostosis of the single suturae (especially sagittal, lambdoid and coronal), as well as the pancraniosynostosis (Vega et al 2016).…”

Radiological imaging of teratological fetuses: what can we learn?

“…They usually affect all skeletal elements equally, leading to a decreased postural length (dwarfism). Therefore, skeletal dysplasias can be seen as generalised qualitative disorders of the skeleton, without primarily affecting the body plan [18]. Although achondroplasia is a specific diagnosis among the more than 300 skeletal dysplasias presently known, it has long been used as a generic term for any type of skeletal dysplasia, as it was in the cases described here.…”