International Journal of Paleopathology
, pages 146-157
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Here we present the first known examples ofbrachydactylsfrom an Andean archaeological context, describing the bones involved, presenting a differential diagnosis and discussing the cultural implications of the presence of truncated metapodia in several tombs.
3232 well-preserved long bones representing an MNI of 250 adult humans.
Each bone was visually examined. It was measured with aosteometricBoard, caliper and flexible measuring tape.
Of the 1,210 metapodia excavated in eight funerary contexts, ten were extraordinarily short.
The ten truncated elements represent an NIM of three individuals with two-tomb brachydactyly. The presence of at least two individuals with brachydactyly in a tomb supports an earlier suggestion that the tombs were used for family burials. It is plausible that the third individual from another grave is related to the other two, and the different funerary contexts may reflect postmarital practices.
These cases provide insight into the use of burials and highlight the importance of identifying rare developmental anomalies in the archaeological record, as their presence may indicategenetic relationshipswithin or between archaeological cemeteries.
With mixed contexts and incomplete recovery of skeletal remains, the individualization of brachydactyl elements was not possible. Comparative data from other Andean locations is also lacking.
Suggestions for further research
Identify additional cases of Andean brachydactyly to learn whether the relatively common involvement of the first finger in Andean skeletal specimens is more common than in North America or is unique to Marcajirca.
Brachydactyly is a general term referring to the shortening of the radius of a finger due to hypoplasia or aplasia of one or more segments (Stevenson, 2006). A person can have one or more digits affected, and the expression can be unilateral or bilateral, symmetric (affecting the same digits on both sides) or asymmetric (affecting different digits on each side). The condition may be acquired, present as an isolated feature, or be part of a syndrome. In the hands, the middle phalanges are most commonly affected (Bell, 1951). However, in an archaeological specimen it would be difficult to assess hypoplasia or aplasia of the phalanges due to the incomplete reconstruction of these bones and due to the different sizes of the different phalanges (especially in mixed contexts). Therefore, brachydactyly is less likely to be identified through the phalanges, and metacarpal hypoplasia (brachymetacarpia) and/or metatarsal (brachymetatarsia) is more likely to be the form of brachydactyly identified in paleopathological contexts (Case, 1996; Cybulski, 1988). Although any metacarpal can be affected, the fourth metacarpal and metatarsal are most commonly affected (Stevenson, 2006).
Clinically, brachymetacarpia and brachymetatarsia are considered rare, affecting less than 1/2,000 individuals (Temtamy and Aglan, 2008; Temtamy and McKusick, 1978). Brachymetatarsia is less common than brachymetacarpia, with a clinical incidence of 0.02% to 0.05% (Mah et al., 1983; Urano and Kobayashi, 1978). Brachymetatarsia is often bilateral (72% of cases) with a high prevalence in women (Schimizzi and Brage, 2004; Munuera Martínez et al., 2004; Urano and Kobayashi, 1978). As isolated brachymetacarpy and/or brachymetatarsia is a rare and easily observed hereditary developmental anomaly, its presence may provide information about genetic relationships within or between buried populations (Case et al., 2017; Stojanowski and Schillaci, 2006; Alt and Vach, 1998). As isolated brachydactyly is inherited in an autosomal dominant manner, it should be observable in several generations (Case, 1996).
Two cases of Madelung deformity and possible mesomelic dwarfism (Léri-Weill dyschondrosteosis) were previously reported in a mixed burial from the Late Intermediate Period (ca. 1250 AD) at Marcajirca, a mountainous site in Ancash, Peru (Fig. 1) ( Title Tree et al., 2015). Since then, ten more unusually short skeletal elements have been discovered representing a minimum number of three individuals (MNI) from two other mixed burials, all metapodia. Here we present the first examples of brachydactyly described from an archaeological context in South America. In addition to the fact that brachydactyly is rarely reported in the paleopathological literature, the presence of two individuals with hereditary brachydactyly in one grave corroborates the earlier suggestion that the graves were used for family burials (Titlebaum et al., 2015). It is possible that the third person on another grave was related to the other two, and the different funerary contexts may reflect post-marital practices. These cases provide insight into burial use, suggest continued use of the site over time by an extended kinship group, and highlight the importance of identifying rare developmental anomalies in the archaeological record.
Materials and methods
Human remains at Marcajirca have been found in accessible above-ground walled tombs (chullpas) (n = 35) and underground burials under floors of buildings (n = 2), some of which have been archaeologically tested. While human remains were mixed in chullpas, underground burials produced a combination of individual burials and mixed remains. In almost all contexts, human remains were in excellent general condition.
Radiocarbon dating establishes occupation of Marcajirca
Of the 1,210 metapodia excavated in eight funerary sites at Marcajirca, ten (0.83%) were unusually small (Table 3). These ten truncated elements were observed among the 347 metapodia recovered from Chullpa 7 and Structure 7, including a right first metacarpal, a left fifth metacarpal, four first metatarsals (three right, one left), three fourth metatarsals (two right, one left) . ) and a fifth right metatarsal. These metapodia represent an NIM of three affected individuals (1.20
Brachydactyly is the shortening of the digital rays of the hands and/or feet due to hypoplasia or aplasia of the metacarpals, metatarsals and/or phalanges. Clinically, there is a wide variety of presentations and the condition can be classified into different types depending on the combination of bones involved. Most cases run along genetic lines, occur as isolated cases, or are associated with a variety of syndromes (Poznanski et al., 1977; Temtamy and McKusick, 1978), although they can occur
Brachydactyly was the first anomaly of human development to be recognized as an example of Mendelian inheritance by the anthropologist William Curtis Farabee in his Harvard dissertation (Farabee, 1903). However, paleopathological reports of brachydactyly are rare. In some cases, they are embedded in syndrome descriptions. For example, Kozieradzka-Ogunmakin (2011) presented a case of multiple epiphyseal dysplasia in an alleged male Egyptian skeleton from the Old Kingdom.
Identifying a history of rare diseases is important for understanding the age of diseases, and their presence can help us understand how individuals endured their illnesses and how they were treated by their communities. Furthermore, low-frequency hereditary traits can provide information about relationships within or between archaeological cemeteries. Thus, they can indicate which individuals are genetically related and provide information about the social organization of a cemetery. O
This investigation was supported byHuari-Ancash Bioarchäologische Feldschuleit's atUniversity of Arizona School of Medicine - Phoenix. Our deepest appreciation goes out to the field school students and staff for the 2013-2017 season. We would like to acknowledge the hard work of the IJPP editors and the organizers and editor of this special issue, Dr. Julia Gresky and Emmanuelle Petiti and I thank them for compiling this volume. We greatly appreciate your attention and
- A.R.title treeand others
Madelung deformity and possible Leri-Weill dyschondrosteosis: two cases from a Late Intermediate Period tomb, Ancash, Peru
Int. J. Paleopatol.
- A.skirmishand others
foot ankle clinic N.Am.
Multiple epiphyseal dysplasia in an ancient Egyptian skeleton: case report
Int. J. Paleopatol.
- D.Johnsonand others
Missense mutations in the HOXD13 homeodomain are associated with brachydactyly types D and E
Era. J. Hum. Genet.
- KWAltand others
Kinship Studies in Skeletal Remains - Concepts and Examples
- R.M.Archibaldand others
Endocrine importance of the short metacarpal bones
J.Clin. endocrinol. Metabolism.
Metacarpal lengthening by osteogenic distraction in infantile brachydactyly
Acta Orthop. Belgium.
- M.Vacaand others
Ancient DNA reveals kinship and burial patterns of a pre-Columbian Andean community
Developmental field anomalies of the human skeleton: a paleopathological perspective
Surgical correction of brachymetatarsia
Jelly. Med Podiatrist. Association
About brachydactyly and symphalangism
The Laws of Scientific Palmistry
Brachydactyly: a common complication of sickle cell anemia
Br. J. Radiol.
Standards for data collection from human skeletal remains
Arkansas Archaeological Survey Research Series Nr. 44. Fayetteville, Arkansas
Developmental variation in South African Bantu: variant co-occurrence and skeletal asymmetry
Developmental disorders of the hands and feet in paleopathology
Os intermetatarseum: a hereditary accessory bone of the human foot
Was. J. Phys. Anthropol.
Skeletal relationship analysis based on developmental anomalies of the foot
Int. J. Osteoarchaeol.
Brachydactyly, a possible hereditary anomaly in Prince Rupert's prehistoric harbor
Was. J. Phys. Anthropol.
Hereditary and sexual influences on meristic variation: a study of digital malformations in humans
Classification and identification of hereditary brachydactyly
J. Med. Oh my.
Metacarpophalangeal length in the evaluation of skeletal malformations
Reference for Pseudohypoparathyroidism, # 10758
Pseudo-pseudohypoparathyroidism Reference, #7860
Reference for Acrodysostosis, No. 5724
Turner Syndrome Reference #7831
A multi-isotope approach to reconstructing human housing and food during the Late Intermediate Period (AD 1000-1450) in the Ancash Highlands, Peru
2022, Journal of Archaeological Science: Berichte
The Late Intermediate Period (LIP, c. AD 1000–1450) was a period of cultural change in the Peruvian highlands. During this period, interpersonal violence increased and settlements were built in high altitude defense sites. High altitude settlement was also a substitute for agropastoral economies. Coinciding with these cultural and economic changes were changes in burial practices, with the deceased being buried in above-ground graves called chullpas and in caves. In this article, we examine the impact of these changes on diet and mobility through a multiisotopic analysis of human burials from three LIP sites in the Conchucos region. We analyzed strontium (87Sr/86Sr) and carbon and nitrogen (δ13C e d15N) Isotopes in human skeletal remains (n=101) from cemeteries in Marcajirca (n=66), Jato Viejo (n=9) and Ushcugaga (n=26). Dietary mixture models were run in all three locations using δ13C e d15The N values indicate a diet based mainly on corn and camelids, with low consumption of C3plants and guinea pigs. human tooth enamel87Sr/86Sr values ranged from 0.7095 to 0.7125 and varied significantly between sites. all human87Sr/86The Sr values were similar to those found in regional geology, suggesting that those buried at the three sites were likely from the Conchucos region. Also standard on87Sr/86Sr values may indicate that those buried in chullpas and caves were members of extended kin groups. We conclude that groups residing in Conchucos during the LIP established and maintained local exchange networks that exploited vertically stacked production zones.
A probable case of holoprosencephaly with cyclopia in a term fetus from a collection of modern skeletons
International Journal of Paleopathology, Band 33, 2021, S. 25-29
This study provides evidence of a probable case of holoprosencephaly with cyclopia rarely reported in the paleopathological literature.
The skeletal remains of a male fetus between the 36th and 40th week of pregnancy from the skeletal collection of the Milan Cemetery Collezione Antropologica LABANOF (CAL) were examined.
Bones were examined macroscopically and pathological abnormalities were recorded and evaluated along with paleopathological and clinical literature.
Developmental abnormalities have been observed. Specifically, a single orbit and optic canal were present, and the frontal, sphenoid, and palatine bones were prematurely fused. These changes altered the normal morphology of the midline structures of the skull and face.
The observed developmental abnormalities are consistent with a case of holoprosencephaly associated with cycloopia.
Holoprosencephaly is a fatal congenital condition caused by the failure of the forebrain to separate in half. This condition is well known clinically, with an estimated modern incidence of 1/16,000 births; However, the paleopathological literature lacks reports that help anthropologists and paleopathologists in the interpretation of these anomalous signs in dry bone. This report documents a rare paleopathologic case of the disease in a full-term fetus from a collection of modern skeletons.
Taphonomic and anthropic factors may have interfered in the observation of any pathological characteristic.
Comparative studies with cases from documented collections can improve knowledge about the occurrence of this dry bone disease.
A possible case of juvenile idiopathic arthritis from Renaissance Lucca (Tuscany, central Italy)
International Journal of Paleopathology, Band 33, 2021, S. 72-83
The skeletal remains of a young individual (Guinigi US 1278) are described and a differential diagnosis is made to determine the probable etiology of the bony changes.
Archaeological excavations carried out in the private funerary chapel of the upper-class Guinigi family (14th-17th centuries AD) of Lucca (Tuscany, central Italy) have brought the fragmented human skeletal remains of a young individual (Guinigi US 1278) in light of pathological bone changes.
The differential diagnosis followed the morphological and radiological analysis.
Guinigi US 1278 was a non-adult, 16 to 20 years old, showing active skeletal changes in the form of vertebral fusion and extensive subchondral bone changes of the small and large joints of the appendicular skeleton. The severity of the resorption process in the peripheral joints, as well as the fusion of the vertebrae, indicate a long-term inflammatory process.
The characteristics and distribution of the skeletal lesions of Guinigi US 1278 correspond very well to a form of juvenile idiopathic arthritis (JIA) that leads to irreversible phenomena such as subchondral erosive lesions and axial ankylosis with impaired gait and neck movements.
Although the clinical literature on JIA is abundant, paleopathological studies are scarce. The possible JIA case from Lucca offers a direct opportunity to study the chronic course of rheumatic diseases in young people in the absence of adequate medical therapies in antiquity.
Future molecular analyzes may be able to identify specific HLA region alleles responsible for JIA subtypes.
Infectious diseases and malnutrition in early industrialization in South Africa
International Journal of Paleopathology, Band 33, 2021, S. 128-136
Real industrialization came late in South Africa and was associated with the development of mining in the northern regions. This article examines the emergence and spread of infectious diseases (particularly tuberculosis) in the context of metabolic diseases.
Published skeletal data from various mining sites and historical information are compiled, including information on early additions to the Raymond A. Dart Collection.
Although finds from various sites (eg Gladstone near the Kimberley, Koffiefontein, Witwatersrand Deep Mine and Lancaster Mine) have been described individually, they have not been assessed collectively. This article provides a broad overview by gathering information from these locations compared to a pre-industrial rural population.
Malnutrition, including scurvy, was common in most mining companies. Tuberculosis was rare in former mining areas, and the first possible skeletal cases did not appear until the establishment of gated housing complexes. From there, it quickly spread across the subcontinent.
Malnutrition/metabolic diseases and high mortality rates from trauma and infectious diseases were common. Tuberculosis in South Africa is closely linked to the development of the mining industry.
This research sheds light on the development of tuberculosis in South Africa and its association with the mining industry. The role of migrant workers and associated housing practices are explained.
Sample sizes are limited, but the results of this study are supported by documentary evidence.
The sample size should be increased and the association between living in a closed condominium and the development of the disease should be better investigated.
Rarity of Congenital Malformations and Malformations in the Vertebrate Fossil Record - A Non-Human Perspective
International Journal of Paleopathology, Band 33, 2021, S. 30-42
A malformed thoracic joint of the Middle Devonian antiarchipes Asterolepis ornata is described and congenital malformations in the fossil record are reviewed.
The specimen of A. ornata (MB.f.73) from Ehrman, Latvia, preserved at the Museum für Naturkunde Berlin, Germany.
A. ornata was examined macroscopically and radiologically and the overview of congenital malformations was based on an extensive literature review.
In the deformed joint of A. ornata, the joint surfaces and muscle insertion sites are greatly reduced, indicating limited mobility. Congenital malformations have been found since the Middle Silurian and affect all vertebrate groups, but they are rare. The teeth and spine are the most commonly affected anatomical regions, and the mechanisms that cause these malformations have likely remained the same throughout Earth time.
Microtomography of the deformed joint shows no disruption of the normal trabecular pattern and no evidence of trauma or disease, suggesting congenital hypoplasia, although an acquired deformity cannot be completely ruled out.
Congenital malformations, even rare ones, have been part of the common history of vertebrates for over 400 million years.
Epidemiological measures such as incidence and prevalence generally cannot be applied to define rare diseases in the fossil record.
A large-scale analysis of fossil vertebrate species with numerous specimens recovered (eg many teleosts, amphibians, certain dinosaurs) could statistically confirm the occurrence of malformations and possible correlations with the paleoenvironment.
Correlation between atherosclerosis and osteoarthritis in ancient Egypt: a standardized review of 45 whole-body CT scans
International Journal of Paleopathology, Band 33, 2021, S. 137-145
Correlating atherosclerosis (Ath) and osteoarthritis (OA) in mummies from ancient Egypt.
Whole-body CT scans of 23 mummies from the Egyptian Museum and Papyrus Collection, Berlin, Germany and 22 mummies from the Museo Egizio, Turin, Italy.
Ath was evaluated in five anatomical regions based on preserved arterial calcifications. OA was assessed using the Kellgren and Lawrence (1957) classification.
Statistical analysis revealed no correlation between Ath and total OA. A significant association was found for Ath and the upper limb group for OA grade > 1 and for Ath and the lower limb group, consisting mainly of the hip and knee, for OA grade > 2 OA.
The association of Ath and advanced osteoarthritis of the hip and knee is comparable in prevalence to those reported in recent clinical studies, despite the low life expectancy and the different environment and lifestyle of the ancient Egyptians.
This is the first study to statistically correlate Ath and OA findings in ancient Egypt. Ath and OA diseases are widespread diseases with huge and growing implications for public health.
The large number of cardiovascular diseases was indicated only by the hardening of the arteries resisting the post mortem changes of the mummification process. Furthermore, the evaluated OA was based on the radiological OA.
Genomic studies of ancient Egyptian mummies may reveal genetic risk factors for Ath and OA that may be shared across ancient and modern populations.
Rare cases of rare diseases: reexamination of early 20th century anencephaly cases from the collection of Moscow State University, Russia
International Journal of Paleopathology, Band 34, 2021, S. 12-19
Documented cases of anencephaly have been used to increase the differential criteria for this rare disease.
Two skulls from a 20th centuryºCentury documented medical collection at Moscow State University with a diagnosis of anencephaly.
The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and radiographic analysis.
Metric values and morphological features differ between the two cases of anencephaly listed in the collection and published data based on normal fetal and neonatal remains.
The analysis of medical collections helps to increase the number of diagnostic criteria to detect and diagnose anencephaly in archaeological skeletons.
Improving the detection of skeletal changes associated with anencephaly is critical to improving our understanding of the rare diseases of the past.
The fragility of the skeletal elements of fetal and newborn individuals can make a detailed analysis difficult.
Continue to identify cases of anencephaly in medical collections and in archaeological contexts.
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