Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
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.
Department of Oral Biology, Division in Anatomy & Developmental Biology, BK21 PLUS Project, Yonsei University College of Dentistry, Seoul, Republic of Korea.
Eun Jin
EJ
Woo
Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Republic of Korea.
Won-Joon
WJ
Lee
Department of Oral Biology, Division in Anatomy & Developmental Biology, Human Identification Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea.
Kyung-Seok
KS
Hu
Department of Oral and Maxillofacial Radiology, Dental Hospital of Yonsei University College of Dentistry, Seoul, Republic of Korea.
Jae Joon
JJ
Hwang
D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D001106:Archaeology / Q000379:methods*; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D008141:Lordosis / Q000175:diagnosis / Q000235:genetics; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D009139:Musculoskeletal Abnormalities; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics; D010163:Paleontology / Q000379:methods*; D010164:Paleopathology / Q000379:methods*; D055110:Radiometric Dating; D056910:Republic of Korea; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed