Familial occurrence of skeletal developmental anomalies as a reflection of biological relationships in a genealogically documented Central European sample (19th to 20th centuries).

Skeletal developmental anomalies (SDA) are a subject of constant interest across scientific disciplines, but still mostly as isolates and curiosities. The aim of this study was to find out to what extent the occurrence of SDA reflects documented biological relationships. The skeletal remains of 34 individuals with known genealogical data were available, members of one family over four generations (19th to 20th centuries, Bohemia, Czech Republic), including some inbred individuals. The occurrence of 89 SDA was assessed on the basis of scopic morphological evaluation and X-ray and CT examinations. The degree of similarity between individuals was calculated using a "similarity coefficient" (SC). A linear model was used to test the relationship between positive values of the SC and the relatedness of biologically related individuals. Simultaneously, based on population frequencies of the evaluated anomalies, those that could be considered familial were recorded. A statistically significant relationship between morphological similarity and the biological distance between individuals was found. The greatest similarity was found among close relatives such as parents and children, siblings, or grandparents and grandchildren. The effect of increased consanguinity on the occurrence of anomalies was not confirmed, however. Seventeen SDA shared by closely related individuals were found in the sample, supporting the documented family relationships among them. Eleven of these were selected as possibly familial, but only five were statistically significant: an elongated styloid process, a cervical block vertebrae (arch, facet joints), hamate hamulus aplasia, anteater nose sign, and incomplete fusion of the S1 spinous process. There were also 28 cases of individual occurrences of 17 different SDA, without connection to the documented relationships between individuals.

Biological relationships and frontal sinus similarity in skeletal remains with known genealogical data.

Frontal sinus analysis has potential utility for detecting biologically related individuals. However, the methodological approach to its evaluation, as well as its informative value, have been questioned. The aim of this work is to introduce a new approach to evaluating the frontal sinus using the 'external supraorbital line' (ESOL) and to determine whether there are sex differences within families in frontal sinus measurements and whether frontal sinus similarity reflects known genetic relationships in both measurements and morphology. We examined the skeletal remains of 41 adult individuals (25 males, 16 females), all members of one family over four generations (19th to 20th centuries), including individuals with very close consanguinity. CT images of skulls were acquired, and both the dimensions and morphology of the frontal sinuses were analyzed using their portions above the ESOL. No significant sex differences were found within families based on frontal sinus dimensions. Significant relationships were found between biological distance and the maximum height and morphology of the frontal sinuses. The greatest degree of similarity was found among closely related individuals. Additionally, in several cases, there was a greater degree of similarity between first cousins or grandparents and their grandchildren than among siblings or parents and their children. Total surface, volume and width are not significant indicators of relatedness. Known genetic relationships are also supported by individual morphological features. Variability within families with very close consanguineous relationships was lower than within families with common degrees of consanguinity, although differences are significant only for some variables.

Does sternal body shape reflect family relationships? A study on a genealogically documented Central European osteological sample (19th-20th centuries).

In forensic contexts, sternal anatomical varieties represent useful tools for the identification of an individual, either by comparison of ante-mortem and post-mortem data, or by potential comparison of data from biologically related individuals. Sternal body variation is also used to detect the biological affinity of individuals in bioarchaeology. However, no study has been made available to date on the degree to which the overall shape of the sternal body reflects the degree of biological relatedness. We, therefore, analyzed the sternal body shape of 10 individuals with known genealogical data, members of one family over three generations including inbred individuals (19th-20th centuries, Bohemia, Czech Republic), and a control sample of 12 biologically unrelated individuals. First, closely biologically related individuals were compared with unrelated individuals based on 10 variables expressing the morphological characteristics of the sternum, and then all individuals were compared based on Fourier analysis depending on their degree of relationship. The results showed that there is a greater degree of shape similarity in biologically related individuals than in unrelated individuals, and variability decreases with an increasing degree of relatedness. Inbred individuals showed the lowest sternum-shape distances and degree of variability, while unrelated individuals, showed the highest distances and variability. Moreover, in some cases, the documented relationships were also supported by a similar morphology of the ossified and fused xiphoid process. Thus, sternal shape analysis expands the possibilities for individual identification and the detection of the biological affinity of individuals for both the forensic sciences and bioarchaeology.

Frontal sinus anatomy of the noble Swéerts-Sporck family and verification of their biological relationships using similarity analysis.

The evaluation of frontal sinus similarity is one way to detect biological relationships, especially in small groups, including families of historically known personalities. However, possibilities for studying this issue are currently limited. This contribution deals with the frontal sinuses of a rare osteological sample with known genealogical data, members of the noble Swéerts-Sporck family from the 17th to 20th centuries. The aim is to verify whether the frontal sinuses reflect documented family relationships. Basic dimensions of the frontal sinus such as total surface area and volume, and maximum height and width, and also morphology and anatomical features were evaluated using computed tomography scans. The portions of the frontal sinus above the "external supraorbital line" were analyzed. The degree of similarity between biologically related individuals was determined for each variable and compared with their known biological distance. The degree of similarity based on dimensions was evaluated using both the unadjusted measured data and standardized data adjusted to size. For the unadjusted dimensions, a positive correlation between morphological similarity and biological relatedness was apparent. On the other hand, no positive correlation was apparent for most of the standardized data. Only total volume showed a very weak indication of a positive trend in the standardized data, but this was weaker than in the original values. A positive quantifiable relationship between morphological patterns and biological distance is not clearly indicated. However, nonmetric features do support the documented relationships of the individuals.

Kinship and the familial occurrence of skeletal developmental anomalies in the noble Swéerts-Sporck family (Bohemia, 17th to 20th centuries).

OBJECTIVE: To determine the degree of similarity of biologically related individuals according to the occurrence of skeletal developmental anomalies (SDA), to see whether these anomalies reflect documented biological relationships. MATERIAL AND METHODS: The sample consists of the skeletal remains of seven members of the noble Swéerts-Sporck family from the 17th-20th centuries. Eighty-nine SDA were examined using morphological assessment, X-ray and CT. The degree of similarity was calculated using a similarity coefficient (Cvrcek et al., 2018). RESULTS: There were three shared SDA in the sample (cranial shift at the C-T border, cervical ribs, hypoplasia of rib 12), and another fifteen individual SDA were reported. The degree of similarity between individuals supports their documented relationships. The greatest similarity was found in closely related individuals such as father/son or siblings, and the least between unrelated individuals. CONCLUSIONS: SDA can be used as a supportive tool for detecting family relationships. The results correspond to the conclusions of earlier analyses of non-metric traits and frontal sinuses in the same sample: the smaller the biological distance between individuals, the greater the degree of their similarity. SIGNIFICANCE: Using unique human skeletal collections, this communication contributes to the expansion of knowledge about the familial occurrence of SDA. LIMITATIONS: The small number of individuals limits the use of statistical approaches. SUGGESTIONS FOR FURTHER RESEARCH: The results call for research on this topic using a larger sample with known genealogical data and the same approaches, to confirm our conclusions.