Klippel-Feil syndrome cases from Slovakia

Abstract

Objective: This study analyzes two probable cases of Klippel-Feil syndrome (KFS) from the region of modern Slovakia and provides an overview of possible cases reported in 'grey' literature.

Materials: Two adult skeletons with probable KFS from Vráble-Veľké Lehemby and Radoľa-Koscelisko.

Methods: Macroscopic analysis was performed using standard osteological methods.

Results: The two analyzed skeletons represent probable cases of KFS; one from the Neolithic, and one from the Middle Ages. Additional cases of potential KFS have been indicated within the 'grey' literature.

Conclusions: The study shows that KFS was present in prehistoric eastern Central Europe. The few cases of ancient rare diseases may be a result of past and present bioarcheological research, and many cases are hidden within 'grey' literature. A re-examination of older datasets is vital.

Significance: The described cases from modern Slovakia contributes to a limited list of archaeological cases, thus widening our knowledge about the occurrence of this rare condition throughout Europe in the past.

Limitations: The state of past and present osteo-archaeological research in eastern Central Europe, poor preservation of some remains, and lack of pathognomonic features associated with KFS.

Suggestions for further research: Systematic review of older skeletal assemblages and 'grey' literature.

Keywords: Ancient rare diseases (ARD); Congenital block of vertebrae; Eastern Central Europe; Middle ages; Prehistory; Reassessment.