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朝鲜后期（韩国）人群中与侏儒症相关的骨骼发育异常的古病理学研究。

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

作者信息

Woo Eun Jin, Lee Won-Joon, Hu Kyung-Seok, Hwang Jae Joon

机构信息

Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea.

Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea.

出版信息

PLoS One. 2015 Oct 21;10(10):e0140901. doi: 10.1371/journal.pone.0140901. eCollection 2015.

DOI:10.1371/journal.pone.0140901
PMID:26488291
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4619213/
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.

摘要

过去的人群中很少有关于遗传病因导致的骨骼发育异常的报道。本报告呈现了一名来自韩国的患有侏儒症相关骨骼发育异常个体的骨骼特征。为评估异常畸形、形态特征、测量数据以及计算机断层扫描，对其进行了分析。鉴别诊断包括软骨发育不全或低软骨发育不全、软骨发育异常、多发性骨骺发育异常、地中海贫血相关的溶血性贫血以及溶酶体贮积病。上肢骨骼的弥漫性畸形以及颅面骨的一些粗大特征表明最有可能的诊断是某种类型的溶酶体贮积病。来自恩平遗址的EP - III - 4 - No.107的骨骼遗骸虽然不完整且破碎，但为骨骼发育异常的古病理学诊断提供了重要线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/698c19374aea/pone.0140901.g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/18b9220b575a/pone.0140901.g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/d07136c36f76/pone.0140901.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/72bd5a238190/pone.0140901.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/c416f011e528/pone.0140901.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/cb572f99ae94/pone.0140901.g009.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/848a83405f3a/pone.0140901.g011.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/698c19374aea/pone.0140901.g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/18b9220b575a/pone.0140901.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/317c235f2d17/pone.0140901.g002.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/9bb11d2eb254/pone.0140901.g004.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/d07136c36f76/pone.0140901.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/72bd5a238190/pone.0140901.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/c416f011e528/pone.0140901.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/cb572f99ae94/pone.0140901.g009.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/4c5f7a3a9556/pone.0140901.g012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2467/4619213/698c19374aea/pone.0140901.g013.jpg

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本文引用的文献

1
Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia.19世纪一个荷兰家庭中短肢侏儒症的骨骼学证据：软骨发育不全或软骨发育低下。
Int J Paleopathol. 2013 Dec;3(4):243-256. doi: 10.1016/j.ijpp.2013.08.004. Epub 2013 Sep 18.
2
Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report.
Int J Paleopathol. 2011 Dec;1(3-4):200-206. doi: 10.1016/j.ijpp.2011.10.002. Epub 2011 Nov 8.
3
Mortality in patients with morquio syndrome a.黏多糖贮积症IV型A患者的死亡率
JIMD Rep. 2015;15:59-66. doi: 10.1007/8904_2014_298. Epub 2014 Apr 10.
4
Clinical characteristics of pediatric thalassemia in Korea: a single institute experience.韩国小儿地中海贫血的临床特征：单中心经验。
J Korean Med Sci. 2013 Nov;28(11):1645-9. doi: 10.3346/jkms.2013.28.11.1645. Epub 2013 Oct 31.
5
A case of unusual association of Gaucher's disease with spinal tuberculosis.
Int J Rheum Dis. 2013 Jun;16(3):361-3. doi: 10.1111/j.1756-185X.2012.01749.x. Epub 2012 May 8.
6
Skeletal abnormalities in lysosomal storage diseases.溶酶体贮积病中的骨骼异常。
Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:406-16.
7
Imaging findings of mucopolysaccharidoses: a pictorial review.黏多糖贮积症的影像学表现：图像综述。
Insights Imaging. 2013 Aug;4(4):443-59. doi: 10.1007/s13244-013-0246-8. Epub 2013 May 5.
8
Orthopaedic aspects of mucopolysaccharidoses.黏多糖贮积症的矫形外科问题。
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393.
9
Radiologic and neuroradiologic findings in the mucopolysaccharidoses.黏多糖贮积症的放射学和神经放射学表现。
J Pediatr Rehabil Med. 2010;3(2):109-18. doi: 10.3233/PRM-2010-0115.
10
Mucopolysaccharidosis VI.黏多糖贮积症 VI 型。
Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5.