Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
Identifieur interne : 000F17 ( Ncbi/Merge ); 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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sort="Lee, Won Joon" uniqKey="Lee W" first="Won-Joon" last="Lee">Won-Joon Lee</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Institute of Forensic Science, Seoul National University College of Medicine, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hu, Kyung Seok" sort="Hu, Kyung Seok" uniqKey="Hu K" first="Kyung-Seok" last="Hu">Kyung-Seok Hu</name><affiliation wicri:level="3"><nlm:aff id="aff003"><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></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hwang, Jae Joon" sort="Hwang, Jae Joon" uniqKey="Hwang J" first="Jae Joon" last="Hwang">Jae Joon Hwang</name><affiliation wicri:level="3"><nlm:aff id="aff004"><addr-line>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Achondroplasia (diagnosis)</term><term>Achondroplasia (genetics)</term><term>Adult</term><term>Archaeology (methods)</term><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><term>Lordosis (genetics)</term><term>Lysosomal Storage Diseases (diagnosis)</term><term>Lysosomal Storage Diseases (genetics)</term><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><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Republic of Korea</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bone and Bones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Achondroplasia</term><term>Bone Diseases, Developmental</term><term>Dwarfism</term><term>Limb Deformities, Congenital</term><term>Lordosis</term><term>Lysosomal Storage Diseases</term><term>Osteochondrodysplasias</term><term>Thalassemia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Achondroplasia</term><term>Bone Diseases, Developmental</term><term>Dwarfism</term><term>Limb Deformities, Congenital</term><term>Lordosis</term><term>Lysosomal Storage Diseases</term><term>Osteochondrodysplasias</term><term>Thalassemia</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Archaeology</term><term>Paleontology</term><term>Paleopathology</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Musculoskeletal Abnormalities</term><term>Radiometric Dating</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><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></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kozieradzka Ogunmakin, I" uniqKey="Kozieradzka Ogunmakin I">I Kozieradzka-Ogunmakin</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Lee, My" uniqKey="Lee M">MY Lee</name></author><author><name sortKey="Min, Sr" uniqKey="Min S">SR Min</name></author><author><name sortKey="Kim, Mk" uniqKey="Kim M">MK Kim</name></author><author><name sortKey="Jeong, Ch" uniqKey="Jeong C">CH Jeong</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Buikstra, Je" uniqKey="Buikstra J">JE Buikstra</name></author><author><name sortKey="Ubelaker, Dh" uniqKey="Ubelaker D">DH 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Hendriksz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lachman, R" uniqKey="Lachman R">R Lachman</name></author><author><name sortKey="Martin, Kw" uniqKey="Martin K">KW Martin</name></author><author><name sortKey="Castro, S" uniqKey="Castro S">S Castro</name></author><author><name sortKey="Basto, Ma" uniqKey="Basto M">MA Basto</name></author><author><name sortKey="Adams, A" uniqKey="Adams A">A Adams</name></author><author><name sortKey="Teles, El" uniqKey="Teles E">EL Teles</name></author></analytic></biblStruct></listBibl></div1></back></TEI><double pmid="26488291"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population</title><author><name sortKey="Woo, Eun Jin" sort="Woo, Eun Jin" uniqKey="Woo E" first="Eun Jin" last="Woo">Eun Jin Woo</name><affiliation wicri:level="3"><nlm:aff id="aff001"><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></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Lee, Won Joon" sort="Lee, Won Joon" uniqKey="Lee W" first="Won-Joon" last="Lee">Won-Joon Lee</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Institute of Forensic Science, Seoul National University College of Medicine, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hu, Kyung Seok" sort="Hu, Kyung Seok" uniqKey="Hu K" first="Kyung-Seok" last="Hu">Kyung-Seok Hu</name><affiliation wicri:level="3"><nlm:aff id="aff003"><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></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hwang, Jae Joon" sort="Hwang, Jae Joon" uniqKey="Hwang J" first="Jae Joon" last="Hwang">Jae Joon Hwang</name><affiliation wicri:level="3"><nlm:aff id="aff004"><addr-line>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26488291</idno><idno type="pmc">4619213</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619213</idno><idno type="RBID">PMC:4619213</idno><idno type="doi">10.1371/journal.pone.0140901</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000027</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000027</idno><idno type="wicri:Area/Pmc/Curation">000027</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000027</idno><idno type="wicri:Area/Pmc/Checkpoint">000042</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000042</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population</title><author><name sortKey="Woo, Eun Jin" sort="Woo, Eun Jin" uniqKey="Woo E" first="Eun Jin" last="Woo">Eun Jin Woo</name><affiliation wicri:level="3"><nlm:aff id="aff001"><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></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Lee, Won Joon" sort="Lee, Won Joon" uniqKey="Lee W" first="Won-Joon" last="Lee">Won-Joon Lee</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Institute of Forensic Science, Seoul National University College of Medicine, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hu, Kyung Seok" sort="Hu, Kyung Seok" uniqKey="Hu K" first="Kyung-Seok" last="Hu">Kyung-Seok Hu</name><affiliation wicri:level="3"><nlm:aff id="aff003"><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></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hwang, Jae Joon" sort="Hwang, Jae Joon" uniqKey="Hwang J" first="Jae Joon" last="Hwang">Jae Joon Hwang</name><affiliation wicri:level="3"><nlm:aff id="aff004"><addr-line>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea</addr-line></nlm:aff><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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. 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Hendriksz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lachman, R" uniqKey="Lachman R">R Lachman</name></author><author><name sortKey="Martin, Kw" uniqKey="Martin K">KW Martin</name></author><author><name sortKey="Castro, S" uniqKey="Castro S">S Castro</name></author><author><name sortKey="Basto, Ma" uniqKey="Basto M">MA Basto</name></author><author><name sortKey="Adams, A" uniqKey="Adams A">A Adams</name></author><author><name sortKey="Teles, El" uniqKey="Teles E">EL Teles</name></author></analytic></biblStruct></listBibl></div1></back></TEI></pmc><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.</title><author><name sortKey="Woo, Eun Jin" sort="Woo, Eun Jin" uniqKey="Woo E" first="Eun Jin" last="Woo">Eun Jin Woo</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Lee, Won Joon" sort="Lee, Won Joon" uniqKey="Lee W" first="Won-Joon" last="Lee">Won-Joon Lee</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Institute of Forensic Science, Seoul National University College of Medicine, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hu, Kyung Seok" sort="Hu, Kyung Seok" uniqKey="Hu K" first="Kyung-Seok" last="Hu">Kyung-Seok Hu</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hwang, Jae Joon" sort="Hwang, Jae Joon" uniqKey="Hwang J" first="Jae Joon" last="Hwang">Jae Joon Hwang</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26488291</idno><idno type="pmid">26488291</idno><idno type="doi">10.1371/journal.pone.0140901</idno><idno type="wicri:Area/PubMed/Corpus">000058</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000058</idno><idno type="wicri:Area/PubMed/Curation">000058</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000058</idno><idno type="wicri:Area/PubMed/Checkpoint">000058</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000058</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.</title><author><name sortKey="Woo, Eun Jin" sort="Woo, Eun Jin" uniqKey="Woo E" first="Eun Jin" last="Woo">Eun Jin Woo</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Lee, Won Joon" sort="Lee, Won Joon" uniqKey="Lee W" first="Won-Joon" last="Lee">Won-Joon Lee</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Institute of Forensic Science, Seoul National University College of Medicine, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hu, Kyung Seok" sort="Hu, Kyung Seok" uniqKey="Hu K" first="Kyung-Seok" last="Hu">Kyung-Seok Hu</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Hwang, Jae Joon" sort="Hwang, Jae Joon" uniqKey="Hwang J" first="Jae Joon" last="Hwang">Jae Joon Hwang</name><affiliation wicri:level="3"><nlm:affiliation>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></analytic><series><title level="j">PloS one</title><idno type="eISSN">1932-6203</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Achondroplasia (diagnosis)</term><term>Achondroplasia (genetics)</term><term>Adult</term><term>Archaeology (methods)</term><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><term>Lordosis (genetics)</term><term>Lysosomal Storage Diseases (diagnosis)</term><term>Lysosomal Storage Diseases (genetics)</term><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><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Republic of Korea</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bone and Bones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Achondroplasia</term><term>Bone Diseases, Developmental</term><term>Dwarfism</term><term>Limb Deformities, Congenital</term><term>Lordosis</term><term>Lysosomal Storage Diseases</term><term>Osteochondrodysplasias</term><term>Thalassemia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Achondroplasia</term><term>Bone Diseases, Developmental</term><term>Dwarfism</term><term>Limb Deformities, Congenital</term><term>Lordosis</term><term>Lysosomal Storage Diseases</term><term>Osteochondrodysplasias</term><term>Thalassemia</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Archaeology</term><term>Paleontology</term><term>Paleopathology</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Musculoskeletal Abnormalities</term><term>Radiometric 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></double></record>Pour manipuler ce document sous Unix (Dilib)
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