Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
Identifieur interne : 000027 ( Pmc/Curation ); précédent : 000026; suivant : 000028Paleopathological 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.
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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<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>
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<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id>
<journal-id journal-id-type="iso-abbrev">PLoS ONE</journal-id>
<journal-id journal-id-type="publisher-id">plos</journal-id>
<journal-id journal-id-type="pmc">plosone</journal-id>
<journal-title-group><journal-title>PLoS ONE</journal-title>
</journal-title-group>
<issn pub-type="epub">1932-6203</issn>
<publisher><publisher-name>Public Library of Science</publisher-name>
<publisher-loc>San Francisco, CA USA</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">26488291</article-id>
<article-id pub-id-type="pmc">4619213</article-id>
<article-id pub-id-type="doi">10.1371/journal.pone.0140901</article-id>
<article-id pub-id-type="publisher-id">PONE-D-15-05590</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population</article-title>
<alt-title alt-title-type="running-head">Dwarfism-Related Skeletal Dysplasia in a Skeleton from South Korea</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Woo</surname>
<given-names>Eun Jin</given-names>
</name>
<xref ref-type="aff" rid="aff001"><sup>1</sup>
</xref>
<xref rid="cor001" ref-type="corresp">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lee</surname>
<given-names>Won-Joon</given-names>
</name>
<xref ref-type="aff" rid="aff002"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hu</surname>
<given-names>Kyung-Seok</given-names>
</name>
<xref ref-type="aff" rid="aff003"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hwang</surname>
<given-names>Jae Joon</given-names>
</name>
<xref ref-type="aff" rid="aff004"><sup>4</sup>
</xref>
</contrib>
</contrib-group>
<aff id="aff001"><label>1</label>
<addr-line>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line>
</aff>
<aff id="aff002"><label>2</label>
<addr-line>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea</addr-line>
</aff>
<aff id="aff003"><label>3</label>
<addr-line>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line>
</aff>
<aff id="aff004"><label>4</label>
<addr-line>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line>
</aff>
<contrib-group><contrib contrib-type="editor"><name><surname>Larsen</surname>
<given-names>Clark Spencer</given-names>
</name>
<role>Editor</role>
<xref ref-type="aff" rid="edit1"></xref>
</contrib>
</contrib-group>
<aff id="edit1"><addr-line>Ohio State University, UNITED STATES</addr-line>
</aff>
<author-notes><fn fn-type="conflict" id="coi001"><p><bold>Competing Interests: </bold>
The authors have declared that no competing interests exist.</p>
</fn>
<fn fn-type="con" id="contrib001"><p>Conceived and designed the experiments: EJW. Performed the experiments: EJW W-JL JJH. Analyzed the data: EJW W-JL K-SH JJH. Contributed reagents/materials/analysis tools: EJW W-JL K-SH JJH. Wrote the paper: EJW.</p>
</fn>
<corresp id="cor001">* E-mail: <email>redqin@yuhs.ac</email>
</corresp>
</author-notes>
<pub-date pub-type="epub"><day>21</day>
<month>10</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="collection"><year>2015</year>
</pub-date>
<volume>10</volume>
<issue>10</issue>
<elocation-id>e0140901</elocation-id>
<history><date date-type="received"><day>11</day>
<month>2</month>
<year>2015</year>
</date>
<date date-type="accepted"><day>1</day>
<month>10</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-year>2015</copyright-year>
<copyright-holder>Woo et al</copyright-holder>
<license xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution License</ext-link>
, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited</license-p>
</license>
</permissions>
<self-uri content-type="pdf" xlink:type="simple" xlink:href="pone.0140901.pdf"></self-uri>
<abstract><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>
</abstract>
<funding-group><funding-statement>This work was supported by the National Research Foundation of Korea Grant funded by the Korean Government. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.</funding-statement>
</funding-group>
<counts><fig-count count="13"></fig-count>
<table-count count="3"></table-count>
<page-count count="22"></page-count>
</counts>
<custom-meta-group><custom-meta id="data-availability"><meta-name>Data Availability</meta-name>
<meta-value>The authors confirm that all data underlying the findings are fully available without restriction. All relevant data are within the paper and its Supporting Information files.</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
<notes><title>Data Availability</title>
<p>The authors confirm that all data underlying the findings are fully available without restriction. All relevant data are within the paper and its Supporting Information files.</p>
</notes>
</front>
</pmc>
</record>
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