Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study

Aviva A. Cormier, Jane Buikstra, Anna Osterholtz

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis. The impressive preservation and meticulous recovery of these skeletal remains have provided the opportunity to identify the first and earliest archaeological example of an individual (EZ 3-7-1) with a combined genetic skeletal dysplasia, Leri-Weill dyschondrosteosis and achondroplasia.

Original languageEnglish (US)
JournalInternational Journal of Paleopathology
DOIs
StateAccepted/In press - Sep 7 2015

Fingerprint

Achondroplasia
Inborn Genetic Diseases
Population
Body Remains
Forests
Pathway
Woodland
Skeletal Remains
Leri-Weil syndrome
1980s
Archaeology
Illinois
Reanalysis
Archaeological Context
Recovery

Keywords

  • Achondroplasia
  • Combined skeletal dysplasia
  • Leri-Weill dyschondrosteosis
  • Lower Illinois Valley

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Archaeology

Cite this

Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual : A case study. / Cormier, Aviva A.; Buikstra, Jane; Osterholtz, Anna.

In: International Journal of Paleopathology, 07.09.2015.

Research output: Contribution to journalArticle

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