Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
Identifieur interne : 000058 ( PubMed/Corpus ); précédent : 000057; suivant : 000059Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
Auteurs : Eun Jin Woo ; Won-Joon Lee ; Kyung-Seok Hu ; Jae Joon HwangSource :
- 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.
DOI: 10.1371/journal.pone.0140901
PubMed: 26488291
Links to Exploration step
pubmed:26488291Le 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>
<term>Female</term>
<term>Humans</term>
<term>Limb Deformities, Congenital (diagnosis)</term>
<term>Limb Deformities, Congenital (genetics)</term>
<term>Lordosis (diagnosis)</term>
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<term>Lysosomal Storage Diseases (diagnosis)</term>
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<term>Middle Aged</term>
<term>Musculoskeletal Abnormalities</term>
<term>Osteochondrodysplasias (diagnosis)</term>
<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>
<term>Thalassemia (genetics)</term>
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<term>Lysosomal Storage Diseases</term>
<term>Osteochondrodysplasias</term>
<term>Thalassemia</term>
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<term>Humans</term>
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<term>Radiometric Dating</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D000130" MajorTopicYN="N">Achondroplasia</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
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<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D016464" MajorTopicYN="N">Lysosomal Storage Diseases</DescriptorName>
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<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
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<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D056910" MajorTopicYN="N" Type="Geographic">Republic of Korea</DescriptorName>
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