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The upper limb: comparison between the humerus, ulna, and radius of the dwarf (on the right) and a normal individual (on the left).
Source publication
The anomalies observed in the skeleton agree with the most probable diagnosis of achondroplasia, although the missing of more diagnostic districts, such as the skull and spine, precludes a certain diagnosis. Macroscopic examination of the pathological skeleton revealed shortening of the long bones without diaphysis bowing, moderate robustness of th...
Context in source publication
Context 1
... the long bones were very short: the upper limbs presented moderate robustness with alterations of muscular attachments and diaphyseal morphology, while the proximal end of the ulna showed enlargement of metaphyses likely to have modified the movement of the elbow ( Figure 2). The tibia and femur were about 10 cm shorter, compared to the standard length of the Roman coeval population, and the diameter and circumference were inferior as well ( Figure 3). ...
Similar publications
Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be fa...
Achondroplasia is a congenital, disfiguring condition which is the most common form of short-limbed dwarfism. Defective cartilage formation is the hallmark of this condition, which results in a wide spectrum of skeletal abnormalities including spinal defects. Various other systems such as cardiac, pulmonary, and neurological can be simultaneously a...
Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizome...
Background and objectives: Mutation analysis in Egyptian children with clinical diagnosis of short limb dwarfism (Achondroplasia). In addition, to adopt a molecular method for both prenatal and postnatal diagnosis.
Materials and methods: Eight sporadic cases of short limb dwarfism were studied. A mutation analysis was done by PCR/RFLP (Polymerase c...
The coincidence of chronic myeloid leukemia (CML) and achondroplastic dwarfism is very rare. A 40-year old man with achondroplastic dwarfism was diagnosed with chronic myeloid leukemia in blastic phase with a Sokal index of 1.34. Standart dose imatinib treatment was immediately started after the diagnosis.
Citations
... In the past, evidence from artistic, archaeological, epigraphic, ethnographic, and osteological materials on disproportionate dwarfism was documented from both skeletal remains and material culture depictions during various periods throughout the world from ancient populations of Egypt (Kozma, 2006(Kozma, , 2008Molto & Kirkpatrick, 2018), the Near East (Slon et al., 2013), Europe (Arcini & Frölund, 1996;Bianucci et al., 2012;Dasen, 1988Dasen, , 1990Dasen, , 1993Frayer et al., 1988;Garcia & Santos, 2020;Gladykowska-Rzeczycka, 1980;Minozzi et al., 2013;Nater et al., 2016;Sables, 2010;Traversaria et al., 2020;Waters-Rist & Hoogland, 2013), Asia (Halcrow et al., 2020;Woo et al., 2015), Latin America (Miller, 1985;Rodríguez et al., 2012), South America (Pachajoa et al., 2009;Rodríguez et al., 2012), and North America (Cormier & Buikstra, 2017;Hoffman, 1976). The earliest case of achondroplasia was found in late Paleolithic tombs in Italy, the remains of an adolescent male named "Romito 2" (Frayer et al., 1988). ...
Skeletal dysplasia is mainly caused by genetic mutations or endocrine abnormality. In this study, a case of disproportionate dwarfism from the Iron Age Beishenjiaqiao cemetery in Xi’an, China is analyzed from the perspective of bioarchaeology. The individual shows disproportionately short stature, with reduced long bone diaphyseal length especially of both humeri, unfused proximal humerus epiphyses, abnormal development of the shoulder and hip joints, left femoral head necrosis, and unusually gracile left femur and tibia shaft, demonstrating limited mobility and labor capacity. Hypothyroidism, pseudoachondroplasia or multiple epiphyseal dysplasia are the most likely possible diagnoses although there are other possibilities. By combining the archaeological evidences and historical records, it is speculated that this individual lived a normal life and was well treated during her lifetime. Overall, this rare case concerning dwarfism not only enriches our knowledge of skeletal dysplasia among ancient Chinese in northern China, but also demonstrates the humanitarian attitude of ancient society towards the disability.
... There are several paleopathological cases of skeletal dysplasia in the literature, including hypochondroplasia (Waters-Rist and Hoogland, 2013), achondroplasia (Minozzi et al., 2013;Sables, 2010;Slon et al., 2013), and proportionate dwarfism (Meyer et al., 2019;Molto and Kirkpatrick, 2018). Within the paleopathological literature, there are several case studies that identify LWD as a likely diagnosis. ...
Objective
This project investigates two cases of skeletal dysplasia from archaeological excavations of the New Kingdom Period (c. 1400–1050 BCE) portion of the Tombos cemetery in Sudan. Materials: Fair to well-preserved skeletal remains of two individuals, one adult and one juvenile, are examined here.
Methods
All available skeletal elements were analyzed macroscopically. A differential diagnosis was conducted for each individual.
Results
The adult individual, U36.Sh2.B10, displays bilateral mesomelic dysplasia and Madelung’s deformity. The juvenile individual, U36.Sh2.B5, also displays bilateral mesomelic dysplasia and characteristics associated with Madelung’s deformity.
Conclusions
A differential diagnosis of Léri–Weill dyschondrosteosis (LWD) is suggested for the adult female individual (U36.Sh2.B10). The second case (U36.Sh2.B5) is an approximately three to five-year-old individual and is difficult to diagnose given the young age; however, LWD remains the most likely diagnosis.
Significance
There are few cases of LWD in the paleopathological literature, and fewer still of juveniles. The cases described are useful examples in expanding research demonstrating the variability in the expression of skeletal dysplasias in juveniles and adults.
Limitations
Taphonomic alterations and fragmentation of the crania and portions of the postcrania limited the observation of the full suite of characteristics associated with skeletal dysplasias. U36.Sh2.B5 is difficult to diagnose given the individual’s young age and the possibility that this individual had not yet developed the more observable characteristics associated with these conditions.
Suggestions for further research
Researchers are encouraged to continue examining the range of expression of skeletal dysplasias in juveniles and adults.
... Poorly preserved bone fragments from an early medieval churchyard in southwestern Sweden are consistent with dysostosis cleidocranialis, a congenital developmental disorder (Persson and Persson, 1984). Minozzi et al. (2013) describe a case of dwarfism in an adult skeleton of the Imperial Age (I-II century AD) from Rome. The anthropological study evidenced a very short stature of this individual (ca. ...
Dwarfs and dwarfism have been well represented in prehistoric and historic art. The visual representations of dwarfs appeared in Egyptian, Chinese and Roman art. Objective article to analyze the presence of dwarf in the Armenian society during the Late Bronze Age and Early Iron Age. The skeletal remains of No.4 from the Artsvakar site, albeit incomplete, provide important clues to the paleopathological diagnosis of dwarfism. Was difficult to assess the sex due to the abnormal skull morphology and missing skeletal elements, several features suggest that this individual was a male, who reached a maturus aged. No specific archaeological context could be determined. The general biological characteristics of dwarfism were presented as background for an interpretation of the bony abnormalities seen in this individual. Pathological changes associated with stressful episodes such as anemia, inadequate nutrition, infectious diseases, which manifest in teeth and on the skull. J Paleopathol 26: 93-104, 2016.
... While it is not wise to assume that the status and identity of the Middle Woodland dwarfs are directly comparable to those in other contexts, understanding of the complex and diverse roles of dwarfs globally informs our perspective of this Middle Woodland individual. Artistic, archaeological, epigraphic, ethnographic, and osteological from other regions throughout the world can suggest the variety of roles and identities persons of short stature have held across time and space, including from ancient populations of Egypt Dasen 1993;Kozma 2006Kozma , 2008, Rome (Minozzi et al. 2013), Greece (Dasen 1993), West Africa (Chap. 5;Gusinde 1955;, the Near East (Fiorello 2014;Slon et al. 2013), Europe (Arcini and Frölund 1996;Bianucci et al. 2012;Frayer et al. 1988;Sables 2010;Waters-Rist and Hoogland 2013), Asia (Woo et al. 2015), Latin America (Miller 1985;Rodríguez et al. 2012), and South America (Pachajoa et al. 2009;Rodríguez et al. 2012). ...
... Thanks to the historical academic emphasis on classical archaeology and the Old World, there are various bioarchaeological and artistic representations of persons with short stature from ancient Italy and Greece. In Italy, examples include the earliest osteological case of dwarfism (Frayer et al. , 1988 from the Upper Paleolithic (10,000 BP), a skeleton from the Roman Imperial Age (first-century AD) (Minozzi et al. 2013), and the many dwarfs recorded to have served the court of Isabella d'Este (AD 1474-1539) (Cartwright 1903;Marek 1976). The roles and status of dwarfs depicted in historical sources range from entertainers and attendants of Imperial Rome to those experiencing divine punishment during the spread of Christianity to being manifestations of social prestige owned during the Renaissance. ...
Over the years, impairment has been discussed in bioarchaeology, with some scholars providing carefully contextualized explanations for their causes and consequences. Such investigations typically take a case study approach and focus on the functional aspects of impairments. However, these interpretations are disconnected from disability theory discourse. Other social sciences and the humanities have far surpassed most of anthropology (with the exception of medical anthropology) in their integration of social theories of disability.
This volume has three goals: The first goal of this edited volume is to present theoretical and methodological discussions on impairment and disability. The second goal of this volume is to emphasize the necessity of interdisciplinarity in discussions of impairment and disability within bioarchaeology. The third goal of the volume is to present various methodological approaches to quantifying impairment in skeletonized and mummified remains.
This volume serves to engage scholars from many disciplines in our exploration of disability in the past, with particular emphasis on the bioarchaeological context.
... Molto più raro è il caso di uno scheletro rinvenuto nella necropoli Collatina (Ser-T.298) affetto da una forma di nanismo 34 . I resti, incompleti e scarsamente conservati, appartengono ad un giovane adulto (20-25 anni) di sesso non determinabile, e con le ossa lunghe degli arti più corte del normale e in parte deformate; la sua statura doveva essere compresa tra 131 e 134 cm. ...
Many diseases induce alterations in the human skeleton, leaving traces of their presence in ancient remains. Paleopathological examination of human remains not only allows the study of the history and evolution of the disease, but also the reconstruction of health conditions in the past populations. This paper describes the most interesting diseases observed in skeletal samples from the Roman Imperial Age necropoles found in urban and suburban areas of Rome during archaeological excavations in the last decades. The diseases observed were grouped into the following categories: articular diseases, traumas, infections, metabolic or nutritional diseases, congenital diseases and tumours, and some examples are reported for each group. Although extensive epidemiological investigation in ancient skeletal records is impossible, the palaeopathological study allowed to highlight the spread of numerous illnesses, many of which can be related to the life and health conditions of the Roman population.
... Molto più raro è il caso di uno scheletro rinvenuto nella necropoli Collatina (Ser-T.298) affetto da una forma di nanismo 34 . I resti, incompleti e scarsamente conservati, appartengono ad un giovane adulto (20-25 anni) di sesso non determinabile, e con le ossa lunghe degli arti più corte del normale e in parte deformate; la sua statura doveva essere compresa tra 131 e 134 cm. ...
Many diseases induce alterations in the human skeleton, leaving traces of their presence in ancient remains. Paleopathological examination of human remains not only allows the study of the history and evolution of the disease, but also the reconstruction of health conditions in the past populations. This paper describes the most interesting diseases observed in skeletal samples from the Roman Imperial Age necropoles found in urban and suburban areas of Rome during archaeological excavations in the last decades. The diseases observed were grouped into the following categories: articular diseases, traumas, infections, metabolic or nutritional diseases, congenital diseases and tumours, and some examples are reported for each group. Although extensive epidemiological investigation in ancient skeletal records is impossible, the palaeopathological study allowed to highlight the spread of numerous illnesses, many of which can be related to the life and health conditions of the Roman population.
This is the first comprehensive study of prosthetics and assistive technology in classical antiquity, integrating literary, documentary, archaeological, and bioarchaeological evidence to provide as full a picture as possible of their importance for the lived experience of people with disabilities in classical antiquity. The volume is not only a work of disability history, but also one of medical, scientific, and technological history, and so will be of interest to members of multiple academic disciplines across multiple historical periods. The chapters cover extremity prostheses, facial prostheses, prosthetic hair, the design, commission and manufacture of prostheses and assistive technology, and the role of care-givers in the lives of ancient people with impairments and disabilities. Lavishly illustrated, the study further contains informative tables that collate the aforementioned different types of evidence in an easily accessible way.
This paper presents a case study of a young adult from the late Neolithic Yangshao cultural period site (∼3300–2900 years BC) of Guanjia (关家) located in Henan Province on the Central Plains of China, who has evidence for skeletal dysplasia characterised by proportional stunting of the long bones and a small axial skeleton, generalised osteopenia, and non-fusion of epiphyses. We provide a detailed differential diagnosis of skeletal dysplasia with paediatric onset and conclude that this is likely a form of hypopituitarism or hypothyroidism, an extremely rare finding within the archaeological context. This paper highlights the issues of distinguishing the forms of proportional dwarfism in palaeopathology because of the considerable variation in manifestation of these conditions. Finally, we assess whether there were any health and social implications for this person and community through the consideration of a bioarchaeology of care approach across the lifecourse, burial context, and information on social perceptions of ‘difference’ in the community.
标题：中国新石器时代不同的成长历程：一个青壮年骨发育异常案例的情景分析及鉴别诊断
本文以中国中原地区河南省新石器时代晚期仰韶文化关家遗址（公元前3300年～2900年）的一个青壮年为研究对象。该个体表现出骨骼发育异常，包括长骨成比例发育不良，较小的中轴骨，全身骨质稀少，及骨骺不融合。我们对该个体进行了儿科骨骼发育不良的详细鉴别诊断，并得出结论，这可能是垂体功能减退或甲状腺功能减退的一种形式。这在考古学背景下是极为罕见的发现。由于各矮化疾病的表现形式有较大的变异性，本文着重讨论了在古病理学中分辨不同形式的成比例矮化的问题。最后，我们结合对整个生命历程的生物考古护理研究、埋葬背景、“差异”个体的社会认知等信息，评估是否对该个体和社区有健康或社会影响。
A rare case of pre-Columbian skeletal dysplasia
from the Middle Woodland period
provides a vehicle for exploring the complexities of interpreting impairment
and disability from bioarchaeological remains and archaeological contexts. The skeletal remains of an adult woman and an associated fetus were excavated from an intrusive pit burial within Mound 3 at the Elizabeth site in the Lower Illinois Valley. The differential diagnosis revealed that the female was experiencing a combined skeletal dysplasia, a nearly full-term pregnancy, and a disseminated bone infection at the time of death. This chapter will demonstrate the difficulty of utilizing the terminology of impairment and disability
in a bioarchaeological context and the complexities of interpreting the associated societal and cultural implications for the people involved.
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 the 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.
