A possible case of Crouzon syndrome from Modern Age Siena

The skeleton of a female adult found in archaeological excavations carried out in Siena (central Italy) and dated back to the Modern Age showed a severe skull malformation. The deformity was due to premature bilateral closure of the coronal suture, left squamous suture and bilateral occipitomastoid suture; the synostosis caused a turribrachycephalic shape, characterised by reduction of the antero-posterior diameter, increase in the biparietal diameter and high and flat frontal bone. Radiological examination evidenced increased digital markings in the endocranial surface of the frontal bone, demonstrating probable brain compression. The craniosynostosis resulted to be associated with other malformations, such as shallow orbits, likely to have determined ocular proptosis, hypertelorism, slight underdevelopment and flattening of the facial bones, mandibular prognathism and consequent malocclusion, but there was absence of anomalies in the remaining hand and foot bones. These features appeared to be related not to an isolated condition, but to a more complex genetic syndrome, suggesting a possible case of Crouzon syndrome, a genetic disorder caused by mutations in the FGFR2 gene, mapped to chromosome locus 10q25-10q26. Nowadays, craniofacial disorders associated with craniosynostosis syndromes are surgically corrected in the infantile age. Therefore, the interest of this case consists not only in the rarity of cases attested in paleopathology, but also in the opportunity of observing the lesions typical of this congenital disorder in an adult subject.