Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
Identifieur interne : 000058 ( PubMed/Curation ); précédent : 000057; suivant : 000059Paleopathological 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.
DOI: 10.1371/journal.pone.0140901
PubMed: 26488291
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Dating</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26488291</PMID><DateCreated><Year>2015</Year><Month>10</Month><Day>22</Day></DateCreated><DateCompleted><Year>2016</Year><Month>07</Month><Day>06</Day></DateCompleted><DateRevised><Year>2015</Year><Month>10</Month><Day>30</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Electronic">1932-6203</ISSN><JournalIssue CitedMedium="Internet"><Volume>10</Volume><Issue>10</Issue><PubDate><Year>2015</Year></PubDate></JournalIssue><Title>PloS one</Title><ISOAbbreviation>PLoS ONE</ISOAbbreviation></Journal><ArticleTitle>Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.</ArticleTitle><Pagination><MedlinePgn>e0140901</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1371/journal.pone.0140901</ELocationID><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></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Woo</LastName><ForeName>Eun Jin</ForeName><Initials>EJ</Initials><AffiliationInfo><Affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Won-Joon</ForeName><Initials>WJ</Initials><AffiliationInfo><Affiliation>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hu</LastName><ForeName>Kyung-Seok</ForeName><Initials>KS</Initials><AffiliationInfo><Affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hwang</LastName><ForeName>Jae Joon</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>10</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>PLoS One</MedlineTA><NlmUniqueID>101285081</NlmUniqueID><ISSNLinking>1932-6203</ISSNLinking></MedlineJournalInfo><SupplMeshList><SupplMeshName Type="Disease" UI="C562937">Hypochondroplasia</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Phys Anthropol. 2000 Sep;113(1):103-9</RefSource><PMID Version="1">10954623</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Shoulder Elbow Surg. 1997 May-Jun;6(3):306-10</RefSource><PMID Version="1">9219137</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2006 Feb 15;140(4):303-11</RefSource><PMID Version="1">16380966</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2007 Jul 14;370(9582):162-72</RefSource><PMID Version="1">17630040</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Best Pract Res Clin Rheumatol. 2008 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MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008141" MajorTopicYN="N">Lordosis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016464" MajorTopicYN="N">Lysosomal Storage Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009139" MajorTopicYN="N">Musculoskeletal Abnormalities</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010009" MajorTopicYN="N">Osteochondrodysplasias</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010163" MajorTopicYN="N">Paleontology</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010164" MajorTopicYN="N">Paleopathology</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055110" MajorTopicYN="N">Radiometric Dating</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056910" MajorTopicYN="N" Type="Geographic">Republic of Korea</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013789" MajorTopicYN="N">Thalassemia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray 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