Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
Identifieur interne : 000F17 ( Ncbi/Curation ); précédent : 000F16; suivant : 000F18Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
Auteurs : Eun Jin Woo [Corée du Sud] ; Won-Joon Lee [Corée du Sud] ; Kyung-Seok Hu [Corée du Sud] ; Jae Joon Hwang [Corée du Sud]Source :
- PLoS ONE [ 1932-6203 ] ; 2015.
English descriptors
- KwdEn :
- 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.
- MESH :
- geographic : Republic of Korea.
- abnormalities : Bone and Bones.
- diagnosis : Achondroplasia, Bone Diseases, Developmental, Dwarfism, Limb Deformities, Congenital, Lordosis, Lysosomal Storage Diseases, Osteochondrodysplasias, Thalassemia.
- genetics : Achondroplasia, Bone Diseases, Developmental, Dwarfism, Limb Deformities, Congenital, Lordosis, Lysosomal Storage Diseases, Osteochondrodysplasias, Thalassemia.
- methods : Archaeology, Paleontology, Paleopathology.
- Adult, Female, Humans, Middle Aged, Musculoskeletal Abnormalities, Radiometric Dating, Tomography, X-Ray Computed.
Abstract
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.
Url:
DOI: 10.1371/journal.pone.0140901
PubMed: 26488291
PubMed Central: 4619213
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PMC:4619213Le document en format XML
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<term>Bone Diseases, Developmental (diagnosis)</term>
<term>Bone Diseases, Developmental (genetics)</term>
<term>Bone and Bones (abnormalities)</term>
<term>Dwarfism (diagnosis)</term>
<term>Dwarfism (genetics)</term>
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<term>Osteochondrodysplasias (genetics)</term>
<term>Paleontology (methods)</term>
<term>Paleopathology (methods)</term>
<term>Radiometric Dating</term>
<term>Republic of Korea</term>
<term>Thalassemia (diagnosis)</term>
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<front><div type="abstract" xml:lang="en"><p>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.</p>
</div>
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