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The painting entitled “Aragonese Dwarf” is an oil on canvas realized in 1825 by the Spanish neoclassical painter Vicente López y Portaña (Valencia, 1772–Madrid, 1850).
The subject of the picture presents with disproportionate short-trunk dwarfing condition, relative macrocephaly and flat face. The limbs are short with hands and feet average-sized.
These phenotypic aspects lead to the diagnosis of Spondyloepiphyseal Dysplasia Congenita (SEDC), a rare inherited autosomal dominant disorder, with a prevalence of approximately 1 per 100,000 live births [1]. The disease, which belongs to the group of type II collagenopathy, results from mutations in type II collagen gene (COL2A1, MIM 183900) [2].
The picture, exposed at Harvard Fogg Art Museum, Cambridge, Massachusetts, can be considered an effective artistic representation of the pathology.
References
Offiah AC (2015) Skeletal dysplasias: an overview. Endocr Dev 28:259–276. doi:10.1159/000381051
Bonafe L, Cormier-Daire V, Hall C et al (2015) Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. doi:10.1002/ajmg.a.37365
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Oranges, C.M., Tremp, M., Kaempfen, A. et al. Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente López y Portaña (1825). J Endocrinol Invest 39, 717 (2016). https://doi.org/10.1007/s40618-015-0417-1
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DOI: https://doi.org/10.1007/s40618-015-0417-1