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.

• MeSH
• Humans MeSH
• Osteogenesis MeSH
• Autopsy MeSH
• Family Relations MeSH
• Somatotypes * MeSH
• Sternum * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

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.

• MeSH
• Child MeSH
• Cervical Vertebrae * MeSH
• Neck MeSH
• Humans MeSH
• Temporal Bone MeSH
• Body Remains * MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

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.

• MeSH
• Inbreeding * MeSH
• Humans MeSH
• Tomography, X-Ray Computed MeSH
• Pedigree MeSH
• Frontal Sinus anatomy & histology   diagnostic imaging   MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

The most significant sexual differences in the human skull are located in the upper third of the face (the frontal bone), which is a useful research object, mainly in combination with virtual anthropology methods. However, the influence of biological relatedness on sexual dimorphism and frontal bone variability remains unknown. This study was directed at sexual difference description and sex classification using the form and shape of the external surface of the frontal bones from a genealogically documented Central European osteological sample (nineteenth to twentieth centuries). The study sample consisted of 47 cranial CT images of the adult members of several branches of one family group over 4 generations. Three-dimensional virtual models of the frontal bones were analyzed using geometric morphometrics and multidimensional statistics. Almost the entire external frontal surface was significantly different between males and females, especially in form. Significant differences were also found between this related sample and an unrelated one. Sex estimation of the biologically related individuals was performed using the classification models developed on a sample of unrelated individuals from the recent Czech population (Čechová et al. in Int J Legal Med 133: 1285 1294, 2019), with a result of 74.46% and 63.83% in form and shape, respectively. Failure of this classifier was caused by the existence of typical traits found in the biologically related sample different from the usual manifestation of sexual dimorphism. This can be explained as due to the increased degree of similarity and the reduction of variability in biologically related individuals. The results show the importance of testing previously published methods on genealogical data.

• MeSH
• Frontal Bone * diagnostic imaging   anatomy & histology   MeSH
• Adult MeSH
• Humans MeSH
• Tomography, X-Ray Computed MeSH
• Sex Characteristics MeSH
• Forensic Anthropology * methods   MeSH
• Sex Determination by Skeleton * methods   MeSH
• Imaging, Three-Dimensional * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

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 (Cvrček 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.

• MeSH
• Skull * MeSH
• Humans MeSH
• Frontal Sinus * MeSH
• Body Remains MeSH
• Ribs MeSH
• Knowledge MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Brooke-Spiegler syndrome (BSS) is a rare, inherited, autosomal dominant disorder characterized by development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. The syndrome of multiple familial trichoepitheliomas (MFT) is considered a phenotypic variant of BSS in which patients present with trichoepitheliomas only. We studied germline and somatic mutations of the CYLD gene by direct sequencing in patients with BSS (n = 49) and MFT (n = 18) using peripheral blood and 90 samples of frozen or formalin-fixed paraffin-embedded tumor tissue selected from 379 available histology specimens. Germline CYLD mutations were found in 51 patients (76%) from 36 families (75%). Germline CYLD mutations were found in 43 of the 49 patients with BSS (88%) but in only 8 of 18 MFT cohort (44%). Twenty-one frameshift, 15 nonsense, 3 missense, and 4 splice site mutations were found in patients with BSS, whereas 1 frameshift, 5 nonsense, and 2 splice site mutations were identified in the MFT cohort. Five novel mutations were identified including 4 frameshift mutations (c.1027dupA/p.T343NfsX7, c.2155dupA/p.M719NfsX5, c.2288_2289delTT/p.F763X, and c.2641delG/p.D881TfsX32) and 1 nonsense mutation (c.2713C>T/p. Q905X). Of the 76 tumors from 32 patients with a germline CYLD mutation, 12 were spiradenomas, 15 spiradenocylindromas, 26 cylindromas, 15 trichoepitheliomas, and 7 were other tumor types. Somatic mutations were detected in 67 specimens of these 76 tumors (88%). Of the 67 somatic mutations, 21 (31%) represented a sequence alteration and 46 (69%) showed loss of heterozygosity. In the remaining 9 cases (12%), the somatic changes remained unknown. A germline CYLD mutation was not detected in 14 tumor samples from 8 patients. In these 14 tumors, somatic mutations were identified in 6 samples (43%), all consisting of sequence alterations (1 sample showed 2 different sequence alterations). In the remaining 8 samples (53%), neither germline nor somatic mutations were found in the lesional tissue. Our study increases the catalog of known CYLD mutations in patients with BSS/MFT to 86 and documents the variability of somatic mutations that may occur in them. We confirm the absence of firm genotype-phenotype correlations and the existence of a subset of patients with BSS/MFT who lack a demonstrable germline CYLD mutation. Further studies are needed to explain the reasons for this phenomenon.

• MeSH
• Biopsy MeSH
• Neoplastic Syndromes, Hereditary genetics   pathology   MeSH
• Adult MeSH
• Phenotype MeSH
• Genetic Predisposition to Disease MeSH
• Skin pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Mutation, Missense MeSH
• Adolescent MeSH
• Young Adult MeSH
• Mutation * MeSH
• DNA Mutational Analysis MeSH
• Tumor Suppressor Proteins genetics   MeSH
• Skin Neoplasms genetics   pathology   MeSH
• Codon, Nonsense MeSH
• Frameshift Mutation MeSH
• Pedigree MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Paraffin Embedding MeSH
• Germ-Line Mutation MeSH
• Frozen Sections MeSH
• Loss of Heterozygosity MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH