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

• Published in: PloS one Vol. 10; no. 10; p. e0140901
• Main Authors: Woo, Eun Jin, Lee, Won-Joon, Hu, Kyung-Seok, Hwang, Jae Joon
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 21-10-2015; Public Library of Science (PLoS)
• Subjects: Achondroplasia; Achondroplasia - diagnosis; Achondroplasia - genetics; Adult; Anemia; Archaeology - methods; Bone and Bones - abnormalities; Bone Diseases, Developmental - diagnosis; Bone Diseases, Developmental - genetics; Bone dysplasia; Bones; Care and treatment; Cemeteries; Chondrodystrophy; Complications and side effects; Computed tomography; Congenital diseases; Cultural heritage; Deformation; Dentistry; Developmental biology; Diagnosis; Dwarfism; Dwarfism - diagnosis; Dwarfism - genetics; Dysplasia; Etiology; Female; Hemolytic anemia; Humans; Hypochondroplasia; Laboratories; 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; Paleopathology - methods; Radiometric Dating; Republic of Korea; Risk factors; Skeleton; Thalassemia; Thalassemia - diagnosis; Thalassemia - genetics; Tomography, X-Ray Computed; Tuberculosis; Republic of Korea; South Korea
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0140901

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.