Skeletal dysplasia of an adult male from medieval Łekno in Poland, Central Europe (original) (raw)
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https://doi.org/10.1002/oa.3155 The skeletal dysplasias are a group of more than 450 heritable disorders that affect bone and cartilage, along with muscles, tendons, and ligaments. Achondroplasia is one of the most common skeletal dysplasias in both current and past populations. It can be transmitted intergenerationally, or it can result from a mutation. This paper aims to describe the lesions visible on the skeleton of a 30-45 year old male with achondroplasia, who lived during the 9th-11th centuries AD (medieval period) in Łekno, Poland. The Łekno settlement complex (Site 3) includes a cemetery with approximately 400 burials of monks and local lay people. Macroscopic examination facilitated a differential diagnosis that identified a probable case of achondroplastic dwarfism, combined with Léri-Weill dyschondrosteosis and ulnar hemimelia. This is
Osteological evidence of achondroplasia in an individual from medieval Reusel, the Netherlands
Archaeological excavations in Reusel (North-Brabant, the Netherlands) revealed a medieval church and a cemetery (10th-15th century AD) with 493 interments. Among these was an adult individual with severely shortened limb bones resulting in a stature estimate of 112.6 to 117.8 +/- 3.27 cm. The bones of this individual were not in anatomical position, suggesting a secondary burial or disturbance of a primary burial when the first gothic church (15th century AD) was built. As a result, only a femur, humerus, ulna, clavicle, and partial pelvis were recovered. While the long bones of upper and lower limbs are markedly shortened, and have additional morphological alterations, the clavicle is of more normal size and morphology, suggesting the individual was affected by a form of disproportionate dwarfism. A differential diagnosis finds the anomalies are most likely the result of the autosomally dominant mutation achondroplasia, a genetic disorder that occurs in about one in 10,000-40,000 births. Around thirty cases of achondroplasia have been reported in the archaeological record, with this individual being among the shortest yet documented. Examination of this individual contributes to our palaeopathological knowledge of dwarfism and sheds light on how Dutch medieval society regarded such individuals.
Please cite this article in press as: Waters-Rist, A.L., Hoogland, M.L.P., Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia. Int. J. Paleopathol. (2013), http://dx.a b s t r a c t An opportunity to explore osteological features of a form of disproportionate dwarfism is presented by a recent archaeological discovery. Excavation of a predominately nineteenth century Dutch cemetery from the rural, agricultural village of Middenbeemster revealed an older adult female with skeletal changes consistent with achondroplasia. The most marked features are a rhizomelic pattern of shortened and thickened upper and lower limbs, frontal bossing and a moderately depressed nasal bridge, small lumbar neural canals with short pedicles, bowing of the femora and tibiae, and short stature (130.0 ± 5 cm). However, some common features of achondroplasia like cranial base reduction and shortened fingers and toes are absent. The alternative diagnosis of a more mild form of short-limbed dwarfism, hypochondroplasia, is explored and aided by archival identification of the individual and her offspring. Five offspring, including three perinates, a 10-year-old daughter, and a 21-year-old son, are analysed for evidence of an inherited skeletal dysplasia. The unique addition of family history to the paleopathological diagnostic process supports a differential outcome of hypochondroplasia. This combination of osteological and archival data creates a unique opportunity to track the inheritance and manifestation of a rare disease in a past population. address: a.l.waters@arch.leidenuniv.nl (A.L. Waters-Rist). 1 Full last names are omitted because of ethical considerations. 1879-9817/$ -see front matter Please cite this article in press as: Waters-Rist, A.L., Hoogland, M.L.P., Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia. Int. J. Paleopathol. (2013), http://dx.
International journal of paleopathology, 2017
Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis. The impressive preservation and meticulous recovery of these skeletal remains have provided the opportunity to identify the first and earliest archaeological example of an individual (EZ 3-7-1) with a combined genetic skeletal dysplasia, Leri-Weill dyschondrosteosis and achondroplasia.
A unique case of skeletal dysplasia in an adult male in Late Iron Age Switzerland
International Journal of Paleopathology, 2021
We report a probable case of multiple skeletal dysplasia observed in a Late Iron Age young adult male. Materials: The individual studied belongs to a Late Iron Age necropolis from Switzerland. The skeletal elements are well preserved Methods: Macroscopic and radiographic assessment. Results: The individual shows evidence of both craniofacial and mandibular deformation. Developmental defects are also visible with effects on the general shape and articular surfaces of both humeri, as well as the left femur and tibia. Conclusion: We propose that the lesions observed are manifestations of skeletal dysplasia, such as pseudoachondroplasia or multiple epiphyseal dysplasia. Significance: This is the first recorded case of multiple skeletal dysplasia in an Iron Age necropolis in Switzerland, questioning the integration of physically compromised individuals in La Tène society. Limitations: Examination of other skeletal dysplasias from archaeological contexts provides support for this diagnosis. Suggestions for future research: The integration of individuals with disabilities in La Tène societies is still poorly understood and further research is needed to better characterize these communities.
International Journal of Paleopathology, 2015
ABSTRACT Two individuals with bilateral Madelung's deformity were identified in a Late Intermediate period comingled tomb at the northern highland site of Marcajirca, Ancash, Peru (ca. AD 1250). Comparisons of the size and robusticity of the radii and ulnae suggest the individuals represent a male and a female. The difference in the severity of the changes is thought to represent variability in the expression of the deformity seen in males and females in clinical cases. Three comparatively short, thick tibiae were also recovered from this tomb, which may suggest that the individuals demonstrate Léri-Weill dyschondrosteosis, a type of dwarfism characterized by mesomelic shortening. These are the first examples of Madelung's deformity to be described from an archaeological context in South America and offer an insight into the use of tombs (chullpas) in Late Intermediate period Ancash.
Forensic Facial Approximation of Achondroplastic Dwarf from Medieval Cemetery in Central Europe
Achondroplasia (ACH, achondroplastic dwarfism) represents the most common form of skeletal dysplasia, occurring in c. 4 out of every 100,000 births. This study presents a computer-based facial approximation of the skull of a male individual suffering from ACH, who died at 30-45 years of age and was buried in Łekno, Poland between the 9th and 11th centuries AD. For the approximation procedure, soft tissue data from CT scans and ultrasonic measurements performed on living individuals were used. Additionally, the anatomical deformation technique was applied to arrive at the most reliable reconstruction of the dwarf’s appearance. To our knowledge, this is the first recreation of a person with achondroplasia, and one of the few showing a head of an individual suffering from a hereditary disease, with dimensions and shape differing from the population average values.Highlights-Forensic facial approximation of an achondroplastic dwarf from 9th–11th century AD has been performed as the firs...
We examine a rare case of bone atrophy of the right lower limb of a skeleton from an early mediaeval (from 12th to 14th century) burial ground in Gruczno, Poland. The skeleton belonged to a man who died at the age of 35-50 years. Morphological, radiological and histological tests indicate neurogenic origin of the atrophic changes. Based on numerous premises the authors infer that the atrophy was probably a result of acute poliomyelitis. For documentary purposes the work contains a morphological description, measurement data and values of bone indices.
A skeleton from a 16-18 th century burial site in Krosno Odrzań skie, Poland, was examined using classical morphological, metric and macroscopic palaeopathological observations, as well as radiography and tomography of the skull and long bones. A wide variety of the observed bone deformations probably occurred as a consequence of past rickets and/or osteomalacia, whose primary cause may also have been chronic renal failure. Preservation of the bones enables a discussion of the cause of such pathological changes. The subject under study appears to be a very interesting example of an individual whose skeleton shows advanced pathological alterations associated with the subject's vitamin D deficiency, overall health conditions and relatively long lifespan.