关键词: Gorlin–Goltz syndrome NBCCS NBCCS history PTCH1 Pompeii Skeletal anomalies Wall paintings portrait

Mesh : Anthropology, Medical Basal Cell Nevus Syndrome / epidemiology genetics history pathology Bone and Bones / pathology Egypt, Ancient / epidemiology Facies Gene Expression Genes, Dominant Germ-Line Mutation Greece, Ancient / epidemiology History, Ancient Humans Mummies / diagnostic imaging history Paintings / history Patched-1 Receptor / genetics Prevalence Rome / epidemiology

来  源:   DOI:10.1016/j.gene.2016.04.038   PDF(Sci-hub)

Abstract:
The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population.
摘要:
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