Klippel-Feil syndrome in a Sardinian population of the 16th century

During the 2009 archaeological excavations conducted in the Alghero cemetery (Sardinia) dating back to the 1582–1583 plague outbreak, sixteen long and narrow graves (trenches), and ten multiple graves were uncovered. A total of 198 skeletons were examined, including the skeletons of two adult males and two subadults, for which the fusion of two cervical vertebrae was identified. The aspect of this condition is characteristic, because not only the vertebral bodies, but also all the other parts of the two vertebrae can be involved, including neural arches, spinous processes and zygoapophyseal joints, with absence of osteophytes: the two fused cervical vertebrae appear not only structurally as one, but also function as one. In medical and paleopathological literature, similar features have been attributed to congenital fusion of cervical vertebrae, a congenital synostosis of one or more continuous segments of the cervical spine, resulting from an embryological failure in the normal spinal segmentation. Furthermore, besides this condition, if the fusion of two vertebrae is accompanied by other anomalies, affecting above all the spinal column, a diagnosis of Klippel-Feil syndrome, a rare type of complex congenital condition, can be considered. Individual 2291, a subadult aged 7-8 years, showed alteration in the morphology of the pars basilaris, a posterior defect of the atlas, fusion of C2-C3, thoracic and lumbar supernumerary vertebrae, lumbar posterior arch defect of L6, spina bifida occulta, and bifurcation of the sternal end of one fragmented rib. The association of these anomalies suggests that the individual was affected by the Klippel-Feil syndrome. Individuals 2284, 2309, 2890, showed fusion of two cervical vertebrae, but no other abnormalities, in part as a consequence of the poor state of preservation of the skeletal remains. In these cases, a diagnosis of Klippel-Feil syndrome is dubitative, and a simple congenital fusion of cervical vertebrae is more likely