Congenital anomalies in a Sardinian population of 16th century (Italy)

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Valentina Giuffra
Marco Milanese
Pasquale Bandiera


congenital diseases, craniosynostosis, atlas occipitalization, posterior arch defect of atlas, Klippel- Feil syndrome, Camurati-Engelmann disease, Sardinia, Modern Age


The anthropological and paleopathological study of the 199 individuals from the Alghero cemetery, related to the plague epidemic that devastated the town in 1582-83, showed a high incidence of congenital anomalies in this population. In particular, a case of non-syndromic brachycephaly, consisting of a cranial malformation due to early closure of the coronal suture, was diagnosed in a subadult. As for the spine, anatomic variants of the atlanto-occipital junction have been observed: a case of posterior arch defect of the atlas occurred in a young male and a case of occipitalization of the atlas associated with other anomalies was observed in an adult male. Two adult males and one subadult had congenital fusion of two cervical vertebrae; in a subadult the fusion of C2 and C3 was accompanied by other anomalies such as supernumerary vertebrae, posterior arch defect of the atlas and L6, spina bifida occulta and bifurcation of a rib; these features permitted to identify a case of Klippel-Feil syndrome. Finally, the most interesting case is a sclerosing disease in an adult-mature male; differential diagnosis has led to a possible case of Camurati-Engelmann disease, a condition characterized by a thickening of the long bones and sclerosis of the cranial vault, of which only 200 cases are known in modern clinical literature. The high incidence of congenital anomalies observed may be attributable to the geographic isolation and the endogamy of the Sardinian population.

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