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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Supplementary concepts

  • Hypochondroplasia

Grants and funding

This work was supported by the National Research Foundation of Korea Grant funded by the Korean Government. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.