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.
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.
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- dítě MeSH
- krční obratle * MeSH
- krk MeSH
- lidé MeSH
- spánková kost MeSH
- tělesné pozůstatky * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Three-dimensional (3D) virtual facial models facilitate genotype-phenotype correlations and diagnostics in clinical dysmorphology. Within cross-sectional analysis of both genders we evaluated facial features in representative cohorts of Czech patients with Williams-Beuren-(WBS; 12 cases), Noonan-(NS; 14), and 22q11.2 deletion syndromes (22q11.2DS; 20) and compared their age-related developmental trajectories to 21 age, sex and ethnically matched controls in 3-18 years of age. Using geometric morphometry statistically significant differences in facial morphology were found in all cases compared to controls. The dysmorphic features observed in WBS were specific and manifested in majority of cases. During ontogenesis, dysmorphic features associated with increased facial convexity become more pronounced whereas other typical features remained relatively stable. Dysmorphic features observed in NS cases were mostly apparent during childhood and gradually diminished with age. Facial development had a similar progress as in controls, while there has been increased growth of patients' nose and chin in adulthood. Facial characteristics observed in 22q11.2DS, except for hypoplastic alae nasi, did not correspond with the standard description of its facial phenotype because of marked facial heterogeneity of this clinical entity. Because of the sensitivity of 3D facial morphometry we were able to reach statistical significance even in smaller retrospective patient cohorts, which proves its clinical utility within the routine setting.
- MeSH
- DiGeorgeův syndrom diagnóza genetika MeSH
- dítě MeSH
- faciální stigmatizace * MeSH
- lidé MeSH
- mladiství MeSH
- modely anatomické * MeSH
- Noonanové syndrom diagnóza genetika MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- Williamsův-Beurenův syndrom diagnóza genetika MeSH
- zobrazování trojrozměrné * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
