Article

Two cases of skeletal dysplasia from New Kingdom (c. 1400–1050 BCE) Tombos, Sudan

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Abstract

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.

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... The data collected for rare diseases, on the other hand, indicate that these conditions are perceived as a specialized and marginal topic, and their evidence is represented by case studies (e.g. Pany and Teschler-Nicola, 2007;Whitmore and Buzon, 2019). However, aggregated by five-year intervals, the data collected for Group A journals indicate an upward trend for both tuberculosis and the four rare diseases together, with the latter showing a higher growth rate. ...
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Chapter
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A rescue excavation at an early medieval Welsh cemetery has revealed rare evidence of an achondroplastic infant dwarf. The osteological examination revealed that the infant exhibited many characteristic features of dysplasia including proportionately short limbs, the early development of coxa vara and bowing tibia, whilst exhibiting normal trunk development. The exceptional preservation of such a good example of an achondroplastic infant will greatly contribute to the palaeopathological knowledge of this hereditary disease. Copyright © 2008 John Wiley & Sons, Ltd.
Article
To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. Monocentric retrospective observational study. Six children (27%) presented with deletions located downstream of SHOX (mean height -1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing SHOX, intragenic deletions or point mutations of SHOX (mean patient height for the 3 latter types of anomalies: -2.6 ± 0.8 SDS). In our sample, the two most frequently observed dysmorphic signs were clinical and/or radiological Madelung deformity (86%) and high arched palate (77%). Half the girls were born small for gestational age. Sixteen children treated with recombinant growth hormone had an increase in height from -2.7 ± 0.7 to -1.4 ± 0.7 SDS. Four children achieved adult height (-2.0 ± 0.9 SDS) with a gain over baseline height of 1.0 ± 0.5 SDS after a mean treatment duration of 5.8 ± 2.1 years. Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the SHOX gene anomaly. Due to the small size of our sample, our findings need to be confirmed in a larger population of patients.
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The existence of dwarfism is amply documented in ancient Egypt due to the rich biological and artistic legacies. In previous articles published in this journal, I discussed the roles of people with skeletal dysplasia in ancient Egyptian civilization. In this article I, along with my Egyptian and American colleagues, describe two skeletons of dwarfs that date to 2700–2184 BCE and were unearthed from a funerary complex near the Great Pyramids in Giza. The first skeleton belongs to a high official, Per-ni-ankh-w, who died between 45 and 50 years of age. His statue is on display in the Egyptian Museum of Cairo. The second skeleton belongs to a pregnant female worker found with a fetus in situ. Her estimated age at death was 25–30 years. She most likely died during childbirth due to a small pelvic outlet as supported by her narrow sacrum. The fetal bones appear normal. Radiological examination of both skeletons confirmed the clinical diagnosis of achondroplasia. Ancient Egyptians concerned themselves with the search for spiritual fulfillment through the tradition of moral teachings. Amenemope, a wise man who lived during the reign of Amenhotep III (1391–1354 BCE), advocated respect toward individuals with disabilities: In summary, artistic, biological, and written resources indicate that dwarfs were well integrated in ancient Egyptian society.
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The ancient Egyptians left an impressive artistic legacy documenting many aspects of their society including the existence of dwarfs as highly valued members. In previous publications in the Journal, I discussed dwarfs and skeletal dysplasia in ancient Egypt. In this study, I examined the ancient Egyptian representations of dwarfs of the Walters Art Museum in Baltimore, Maryland. One of the highlights of the collection is a group of five ivory figurines from Predynastic Times (pre 3500-3100 BCE) depicting a couple, a man with a child, and two females. Representations from other periods include ordinary as well as dwarf deities. The dwarf gods, Bes and Ptah, are frequently depicted holding or biting snakes or standing on crocodiles symbolizing their ability to ward off dangers. A couple of statuettes from the Greco-Roman Period that, in contrast to earlier Egyptian Periods, depict harsh physical anomalies, twisted bodies, and facial pain. The artistic impression can be interpreted as either tragic or humorous. The grotesque depiction of dwarfs during the Greco-Roman Period in ancient Egypt is believed to be due to a greater infusion of Hellenistic influence. This study provides a microcosm of the legacy of dwarfs in ancient Egypt and supports the premise that dwarfs were accepted and integrated in the ancient Egyptian society, and with a few exceptions, their disorder was not depicted as a physical handicap.
Article
Most archaeologists and bioarchaeologists receive little or no training in the recognition of skeletal remains of fetuses, infants, and children. Yet many research sites may contain such materials. Without a framework for identifying the bones or the excavation techniques suited to their recovery, archaeologists may often overlook subadult skeletal remains or even confuse them with animal bones. The Osteology of Infants and Children fills the need for a field and lab manual on this important topic and provides a supplemental textbook for human osteology courses. Focusing on juvenile skeletons, their recovery and identification, and siding in both field and lab settings, the volume provides basic descriptions and careful illustrations of each skeletal element at varying stages of development, along with sections on differentiation from other bones and siding tips. The book offers detailed treatment of the skull and teeth, including the cranial vault and facial bones, and examines the infracranial skeleton: vertebrae, pelvis, chest, shoulders, arms, hands, legs, and feet. A quick reference guide explains age estimation and identification templates. The illustrations are enhanced by photographs from two recent archaeology projects in Egypt, at Abydos and Dakhleh Oasis. The extensive collection of fetal and child remains from these sites provides new reference material unavailable in previous publications, making this manual an unparalleled resource in the field of physical anthropology. Copyright © 2005 by Brenda J. Baker, Tosha L. Dupras, Matthew W. Tocheri, and Sandra M. Wheeler Manufactured in the United States of America. All rights reserved.
Article
Mesomelic dwarfism encompasses several hereditary disorders of short stature with shortening most pronounced in the forearms and distal legs. One form, dyschondrosteosis, manifests as mesomelic shortening with Madelung deformity of the wrist and autosomal dominant inheritance. Another autosomal dominant disorder, hereditary nephritis, presents in early childhood as hematuria and proteinuria and commonly is associated with hearing loss and ocular abnormalities. This report describes a family in which both dyschondrosteosis and nephritis presented concurrently in several members of 4 consecutive generations. To the authors' knowledge this is a heretofore undescribed association of these 2 dominant syndromes.
Article
IN 1878, MADELUNG (8) described a painful abnormality of the wrist and forearm which characteristically began in adolescence. The radiographic alterations of the radius and ulna were described later. The most complete review of the subject is that of Anton et al. (1), who collected and summarized the literature through 1938. Considering this clinical and radiographic abnormality a deformity rather than a syndrome, these workers distinguished it from Madelung's disease, which is characterized by diffuse symmetrical lipomatosis of the upper part of the back, shoulders, and neck. They also suggested that the deformity of the wrist and forearm be considered a dyschondroplasia of the distal radial epiphysis. While this may be a logical name for the entity, it has not found wide usage, Madelung's deformity remaining the preferred term. In 1929, Leri and Weill (7) reported a case of dwarfism and radiographic alterations of the forearm and wrist similar to Madelung's deformity, although no reference was made to M...
Article
We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. Electrophoresis of fibroblast collagens detected defects in type III and type V collagen. Conclusion Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.
Article
To evaluate the growth disorder and phenotype in prepubertal children with Leri-Weill dyschondrosteosis (LWD), a dominantly inherited skeletal dysplasia, and to compare the findings from girls with Turner syndrome (TS). We studied the auxologic and phenotypic characteristics in 34 prepubertal LWD subjects (ages 1 to 10 years; 20 girls, 14 boys) with confirmed short stature homeobox-containing gene (SHOX) abnormalities. For comparative purposes, we evaluated similar physical and growth parameters in 76 girls with TS (ages 1 to 19 years) and 24 girls with LWD (ages 1 to 15 years) by using data collected from the postmarketing observational study, GeNeSIS. In the clinic sample LWD subjects, height standard deviation score ranged from -5.5 to +0.1 (-2.3 +/- 1.3, girls and -1.8 +/- 0.6, boys). Wrist changes related to Madelung deformity were present in 18 of 34 (53%) LWD subjects. In comparing the LWD and TS populations in the GeNeSIS sample, Madelung deformity, increased carrying angle, and scoliosis were more prevalent in the LWD population, whereas high arched palate was similarly prevalent in the two populations. Short stature is common in both LWD (girls and boys) and TS (girls). Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing.
Article
Ancient Egypt was one of the most advanced and productive civilizations in antiquity, spanning 3000 years before the "Christian" era. Ancient Egyptians built colossal temples and magnificent tombs to honor their gods and religious leaders. Their hieroglyphic language, system of organization, and recording of events give contemporary researchers insights into their daily activities. Based on the record left by their art, the ancient Egyptians documented the presence of dwarfs in almost every facet of life. Due to the hot dry climate and natural and artificial mummification, Egypt is a major source of information on achondroplasia in the old world. The remains of dwarfs are abundant and include complete and partial skeletons. Dwarfs were employed as personal attendants, animal tenders, jewelers, and entertainers. Several high-ranking dwarfs especially from the Old Kingdom (2700-2190 BCE) achieved important status and had lavish burial places close to the pyramids. Their costly tombs in the royal cemeteries and the inscriptions on their statutes indicate their high-ranking position in Egyptian society and their close relation to the king. Some of them were Seneb, Pereniankh, Khnumhotpe, and Djeder. There were at least two dwarf gods, Ptah and Bes. The god Ptah was associated with regeneration and rejuvenation. The god Bes was a protector of sexuality, childbirth, women, and children. He was a favored deity particularly during the Greco-Roman period. His temple was recently excavated in the Baharia oasis in the middle of Egypt. The burial sites and artistic sources provide glimpses of the positions of dwarfs in daily life in ancient Egypt. Dwarfs were accepted in ancient Egypt; their recorded daily activities suggest assimilation into daily life, and their disorder was not shown as a physical handicap. Wisdom writings and moral teachings in ancient Egypt commanded respect for dwarfs and other individuals with disabilities.
Article
Trotter and Gleser's (Trotter and Gleser: Am J Phys Anthropol 10 (1952) 469-514; Trotter and Gleser: Am J Phys Anthropol 16 (1958) 79-123) long bone formulae for US Blacks or derivations thereof (Robins and Shute: Hum Evol 1 (1986) 313-324) have been previously used to estimate the stature of ancient Egyptians. However, limb length to stature proportions differ between human populations; consequently, the most accurate mathematical stature estimates will be obtained when the population being examined is as similar as possible in proportions to the population used to create the equations. The purpose of this study was to create new stature regression formulae based on direct reconstructions of stature in ancient Egyptians and assess their accuracy in comparison to other stature estimation methods. We also compare Egyptian body proportions to those of modern American Blacks and Whites. Living stature estimates were derived using a revised Fully anatomical method (Raxter et al.: Am J Phys Anthropol 130 (2006) 374-384). Long bone stature regression equations were then derived for each sex. Our results confirm that, although ancient Egyptians are closer in body proportion to modern American Blacks than they are to American Whites, proportions in Blacks and Egyptians are not identical. The newly generated Egyptian-based stature regression formulae have standard errors of estimate of 1.9-4.2 cm. All mean directional differences are less than 0.4% compared to anatomically estimated stature, while results using previous formulae are more variable, with mean directional biases varying between 0.2% and 1.1%, tibial and radial estimates being the most biased. There is no evidence for significant variation in proportions among temporal or social groupings; thus, the new formulae may be broadly applicable to ancient Egyptian remains.
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