A probable case of Spondylocostal Dysplasia (Jarcho-Levin Syndrome) from 18th century northern Italy

This study examines the differential diagnosis of an unusually fused chest belonging to a set of perinatal human remains retrieved in the crypt of Roccapelago (Italy). This specimen, which dated back to the late18th century, showed a severe synostosis of the costovertebral articulations and posterior arches. The specimen was examined macroscopically and radiologically for the purpose of identify differences in mineral density. It also underwent a CT scan in order to create a 3D digital model and virtually reposition the specimen in anatomical position. The radiological trophism, size, and osteological maturity of the specimen are compatible with a perinate. The chest morphology shows a characteristic crab-like morphology, with the costovertebral articulations and the posterior arches completely fused. Accordingly, a diagnosis of Jarcho-Levin
Syndrome has been suggested. This case appears to be the first study, to the knowledge of the authors, of a probable Jarcho-Levin syndrome, which dated before Jarcho and Levin codified this pathology in the scientific literature.