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

This case report examines the differential diagnosis of an unusually fused chest belonging to a perinatal human remain retrieved in the crypt of Roccapelago (Italy). This specimen, which dated back to the final 18th 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 CT scan in order to create a 3D digital model and virtually reposition 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 report, 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.