X-linked hypophosphatemic rickets: a probable upper Paleolithic case

The skeleton of a middle-aged adult male, found in the Late Epigravettian necropolis of Arene Candide cave (Italy) and dated to the XII millennium B.C., exhibits abnormal changes, including bowing deformities, stunted growth, enthesopathies, and increased bone density. The pattern of the observed changes is less consistent with diagnoses of metaphyseal chondrodysplasias, hypophosphatasia, dietary rickets, or diffuse idiopathic skeletal hyperostosis (DISH) than with X-linked hypophosphatemic rickets, which is the most likely etiological factor. This diagnosis may explain other abnormalities (exceptional elongation of the skull and bilateral absence of the lesser trochanter) displayed by other individuals from the same site.