Pycnodysostosis: Toulouse-Lautrec's and Aesop's disease?

Henri de Toulouse-Lautrec (1864-1901) was initially thought to have had osteogenesis imperfecta. However, following the description of pycnodysostosis as a new genetic skeletal dysplasia, Maroteaux and Lamy concluded that this was Toulouse-Lautrec’s affliction (Figure1). He, in fact, presented all the clinical features suggestive of this diagnosis, in addition to parental consanguinity. Toulouse-Lautrec had bone fragility leading to fractures with minor trauma, a receding chin and possibly open fontanelles, explaining the artist’s insistence on wearing a hat most of the time.