Klippel-Feil Syndrome with other associated anomalies in a Medieval Portuguese Skeleton (13th–15th century)

Abstract

Klippel-Feil syndrome, or synostosis of the cervical spine, is the result of an abnormal division of somites during embryonic development. This report analyses an adult male (exhumed from a Portuguese graveyard dating from the 13th to the 15th century) with malformations in the cranium and vertebral column. Besides the lesions that are typical of Klippel-Feil syndrome type II, other defects usually linked to this pathology are described (occipito-atlantal fusion, hemivertebrae, butterfly vertebrae, cervical rib, changes in normal number of vertebral segments and a possible Sprengel deformity).