Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring

Colombo, Antony; Hoogland, Menno L. P.; Coqueugniot, Hélène; Dutour, Olivier; Waters‐Rist, Andrea L.

doi:10.1016/j.ijpp.2017.12.002

Cited by 6 publications

(7 citation statements)

References 43 publications

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Section: Discussionmentioning

confidence: 99%

“…Trabecular parameters are likely to reflect altered development of the trabecular plates (Colombo et al, 2018). Our results highlight higher BV/TV and DA throughout the whole talus of T17, corroborating the findings of Colombo et al (2018) who showed that trabecular organizational changes in genetic dwarfism from the perinatal period revealed higher density and greater strut alignment. This is due to endochondral histogenesis of the plates that are characterized by wider septa (i.e., future trabeculae) being retained for a longer time with respect to those of individuals without the dwarfing disorder, leading to a more vertically oriented and thickened trabecular mesh (Colombo et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

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The talar morphology of a hypochondroplasic dwarf: A case study from the Italian Late Antique period

Sorrentino

Carlson

Figus

et al. 2021

Intl J of Osteoarchaeology

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This project aims to test whether geometric morphometric (GM) and trabecular analyses may be useful tools in identifying talar characteristics related to hypochondroplasia. We quantified the external and internal talar morphology of a hypochondroplasic dwarf (T17) from Modena (northern Italy) dated to the sixth century AD. External talar morphology of T17 was compared with a broad sample of modern human tali (n = 159) using GM methods. Additionally, a subsample of these tali (n = 41) was used to investigate whole talar trabecular changes in T17. Our results show that GM and trabecular analyses identify a combination of traits linked to the dwarfing disorder of hypochondroplasia. These traits include decreased scaled talar dimensions compared with normal‐sized individuals, presence of an accessory antero‐lateral talar facet, high bone volume fraction, and high anisotropy values throughout the entire talus. In our case study, hypochondroplasia does not appear to substantially modify external talar morphology probably due to the fast growth of the talus. We suggest that small talar dimensions are associated with hypochondroplasia. An antero‐lateral talar facet may result from the talus and calcaneus coalition (i.e., talocalcaneal abnormal bridging) possibly related to an everted foot posture that was limited by overgrowth of the fibula. We suggest that high talar trabecular density and strut orientation provide insights into pathological development of the trabecular plates in T17. Finally, our study suggests that high talar trabecular density and strut orientation, and small talar dimensions, may be added as possible concomitant talar hallmarks for hypochondroplasia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The talar morphology of a hypochondroplasic dwarf: A case study from the Italian Late Antique period

Sorrentino

Carlson

Figus

et al. 2021

Intl J of Osteoarchaeology

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“…On top of illustrating the growth of interest in shape analyses in palaeopathology, our meta‐analysis also revealed key trends that summarize how shape analyses have so far been used in palaeopathology. Overall, we identified four such themes: Describe pathological conditions and support/refute diagnoses (e.g., Berezina & Buzhilova, 2021; Berner et al, 2021; Colombo et al, 2018; Darton et al, 2015; DeSilva & Papakyrikos, 2011; Gunz et al, 2004; Hershkovitz et al, 1997; Milella et al, 2015; Rmoutilová et al, 2020; Slon et al, 2013; Thompson, 2014; Trinkaus, 2018; Vairamuthu & Pfeiffer, 2018; Viciano et al, 2017; Zhao et al, 2020) Understand how specific traits and shape characteristics predispose individuals to pathological conditions (e.g., Bédécarrats et al, 2021; Calce et al, 2018; Mansukoski & Sparacello, 2018; Mays, 2006; Plomp et al, 2012; Plomp et al, 2019; Plomp et al, 2020; Plomp, Viðarsdóttir, Weston, et al, 2015; Shepstone, 2001; Shepstone et al, 1999; Ward et al, 2010; Weiss, 2005) Identify and interpret adaptations and alterations in functional anatomy in response to pathological conditions (e.g., Berner et al, 2021; Churchill & Formicola, 1997; Gilmour et al, 2019; Lazenby & Pfeiffer, 1993; Licata et al, 2019; Micarelli et al, 2018; Roberts et al, 2004; Sparacello et al, 2016; Thompson, 2014; Trinkaus, 2018; Viciano et al, 2017; Viva et al, 2021; Zhao et al, 2020) Provide insight into aspects of physical and social experience, care practices, therapeutic interventions, and social organization (e.g., Bédécarrats et al, 2021; Chevalier, 2019; Cowgill et al, 2015; Formicola & Buzhilova, 2004; Gilmour et al, …”

Section: Sculpting a Palaeopathology Of Shapementioning

confidence: 99%

“…1. Describe pathological conditions and support/refute diagnoses (e.g., Berezina & Buzhilova, 2021;Berner et al, 2021;Colombo et al, 2018;Darton et al, 2015;DeSilva & Papakyrikos, 2011;Gunz et al, 2004;Hershkovitz et al, 1997;Milella et al, 2015;Rmoutilová et al, 2020;Slon et al, 2013;Thompson, 2014;Trinkaus, 2018;Vairamuthu & Pfeiffer, 2018;Viciano et al, 2017;Zhao et al, 2020) 2. Understand how specific traits and shape characteristics predispose individuals to pathological conditions (e.g., Bédécarrats et al, 2021;Calce et al, 2018;Mansukoski & Sparacello, 2018;Mays, 2006;Plomp et al, 2012;Plomp et al, 2019;Plomp et al, 2020;Plomp, Viðarsd ottir, Weston, et al, 2015;Shepstone, 2001;Shepstone et al, 1999;Ward et al, 2010;Weiss, 2005) 3.…”

Section: Sculpting a Palaeopathology Of Shapementioning

confidence: 99%

“…Using these measurements, they were able to diagnose this individual as having achondroplastic dwarfism. Taking these morphological investigations a step further, Colombo et al (2018) compared the trabecular bone microarchitecture (micro‐CT) of a documented Dutch individual with disproportionate dwarfism and her children (buried and identified in the same cemetery), to unrelated individuals. This study aimed to investigate past instances of genetic dwarfism based on known abnormalities preserved in trabecular bone structure.…”

Section: Shape In Palaeopathological History: a Meta‐analysismentioning

confidence: 99%

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The changing shape of palaeopathology: The contribution of skeletal shape analyses to investigations of pathological conditions

Gilmour

Plomp

2022

American Journal of Biological Anthropology

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Analyses of human skeletal shape and geometry are used to investigate questions related to habitual activities and physical lifeways, as well as biological distance and relatedness. Recently, these methods have been applied to research concerning human evolutionary predisposition for disease, as well as functional experiences of pathological conditions. The use of these methods to address palaeopathological questions are relatively new, but related questions and approaches are gaining momentum. This manuscript provides an in‐depth review of the current state of this palaeopathological research by undertaking a meta‐analysis of anthropological literature. From the results of the meta‐analysis, we observe an increase in the use of quantitative shape analyses in palaeopathology, and identify four key themes in this literature: (1) description and diagnosis, (2) shapes that increase pathological risk, (3) shape change that arises from pathology, and (4) shape used for social insight. As this area of study develops, we recommend adaptations to measurement and data collection; comparative examinations of remains at the individual, population, and species levels; and, when possible, representation of all human variation through the inclusion of pathological individuals in geometric analyses. Palaeopathologists are ideally suited to investigate the relationship between bone shape and health, which may prove essential to the continued understanding of disease in both past and contemporary contexts.

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Pediatric paleoradiology: Applications and best practice protocols for image acquisition and reporting

Schaik

Tsai

Liston

et al. 2022

Intl J of Osteoarchaeology

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This paper aggregates and summarizes studies that use paleoradiology techniques in the analysis of pediatric remains. Building on these findings, we offer evidence-based, best-practice protocols for the use of radiographic techniques in the assessment of pediatric remains from archaeological contexts. We also provide a recommended reporting worksheet for recording findings in a standardized way. After reviewing studies of pediatric remains that used radiographic techniques, with a focus on three major bioarchaeological journals, PubMed, and the Yearbook of Mummy Studies, we identified areas for improvement in the acquisition and reporting of paleoradio-

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Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring

Cited by 6 publications

References 43 publications

The talar morphology of a hypochondroplasic dwarf: A case study from the Italian Late Antique period

The talar morphology of a hypochondroplasic dwarf: A case study from the Italian Late Antique period

The changing shape of palaeopathology: The contribution of skeletal shape analyses to investigations of pathological conditions

Pediatric paleoradiology: Applications and best practice protocols for image acquisition and reporting

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