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Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

 Eun Jin Woo  ;  Won-Joon Lee  ;  Kyung-Seok Hu  ;  Jae Joon Hwang 
 PLOS ONE, Vol.10(10) : e0140901, 2015 
Journal Title
Issue Date
Achondroplasia/diagnosis ; Achondroplasia/genetics ; Adult ; Archaeology/methods* ; Bone Diseases, Developmental/diagnosis* ; Bone Diseases, Developmental/genetics* ; Bone and Bones/abnormalities ; Dwarfism/diagnosis ; Dwarfism/genetics ; Female ; Humans ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/genetics ; Lordosis/diagnosis ; Lordosis/genetics ; Lysosomal Storage Diseases/diagnosis ; Lysosomal Storage Diseases/genetics ; Middle Aged ; Musculoskeletal Abnormalities ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Paleontology/methods* ; Paleopathology/methods* ; Radiometric Dating ; Republic of Korea ; Thalassemia/diagnosis ; Thalassemia/genetics ; Tomography, X-Ray Computed
Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.
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2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral and Maxillofacial Radiology (영상치의학교실) > 1. Journal Papers
Yonsei Authors
Woo, Eun Jin(우은진)
Hu, Kyung Seok(허경석) ORCID logo https://orcid.org/0000-0002-9048-3805
Hwang, Jae Joon(황재준)
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