-
Something wrong with this record ?
Familial occurrence of skeletal developmental anomalies as a reflection of biological relationships in a genealogically documented Central European sample (19th to 20th centuries)
J. Cvrček, V. Kuželka, T. Jor, J. Dupej, M. Horák, O. Naňka, J. Brůžek, P. Velemínský
Language English Country Great Britain
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
Free Medical Journals
from 1916 to 2 years ago
PubMed Central
from 1916 to 2 years ago
Europe PubMed Central
from 1916 to 2 years ago
Wiley Free Content
from 1997 to 2 years ago
PubMed
34169512
DOI
10.1111/joa.13499
Knihovny.cz E-resources
- 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
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.
Department of Anthropology National Museum Prague 20 Horní Počernice Czech Republic
Department of Radiology Homolka Hospital Prague 5 Czech Republic
Department of Zoology Faculty of Science Charles University Prague 2 Czech Republic
Institute of Anatomy 1st Faculty of Medicine Charles University Prague 2 Czech Republic
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22003315
- 003
- CZ-PrNML
- 005
- 20220127150341.0
- 007
- ta
- 008
- 220113s2021 xxk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1111/joa.13499 $2 doi
- 035 __
- $a (PubMed)34169512
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Cvrček, Jan $u Department of Anthropology, National Museum, Prague 20, Horní Počernice, Czech Republic $u Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague 2, Czech Republic
- 245 10
- $a Familial occurrence of skeletal developmental anomalies as a reflection of biological relationships in a genealogically documented Central European sample (19th to 20th centuries) / $c J. Cvrček, V. Kuželka, T. Jor, J. Dupej, M. Horák, O. Naňka, J. Brůžek, P. Velemínský
- 520 9_
- $a 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.
- 650 12
- $a tělesné pozůstatky $7 D000071298
- 650 12
- $a krční obratle $7 D002574
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a krk $7 D009333
- 650 _2
- $a spánková kost $7 D013701
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Kuželka, Vítězslav $u Department of Anthropology, National Museum, Prague 20, Horní Počernice, Czech Republic
- 700 1_
- $a Jor, Tomáš $u Department of Zoology, Faculty of Science, Charles University, Prague 2, Czech Republic
- 700 1_
- $a Dupej, Ján $u Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague 2, Czech Republic
- 700 1_
- $a Horák, Martin $u Department of Radiology, Homolka Hospital, Prague 5, Czech Republic
- 700 1_
- $a Naňka, Ondřej $u Institute of Anatomy, First Faculty of Medicine, Charles University, Prague 2, Czech Republic
- 700 1_
- $a Brůžek, Jaroslav $u Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague 2, Czech Republic
- 700 1_
- $a Velemínský, Petr $u Department of Anthropology, National Museum, Prague 20, Horní Počernice, Czech Republic
- 773 0_
- $w MED00002511 $t Journal of anatomy $x 1469-7580 $g Roč. 239, č. 5 (2021), s. 1226-1238
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/34169512 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220113 $b ABA008
- 991 __
- $a 20220127150338 $b ABA008
- 999 __
- $a ok $b bmc $g 1750932 $s 1154464
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 239 $c 5 $d 1226-1238 $e 20210624 $i 1469-7580 $m Journal of anatomy $n J Anat $x MED00002511
- LZP __
- $a Pubmed-20220113
