Henri de Toulouse Lautrecs disease

What was Henri de Toulouse Lautrecs disease?

Henri de Toulouse Lautrec (1864–1901) developed growing pains at the age of 8 years, was hospitalized for rehabilitation at 10, and fractured his femurs following minimal trauma at 14 and 15 years. The clinical geneticists Maroteaux and Lamy noted the parental consanguinity and short stature and proposed the diagnosis of pyknodysostosis, an autosomal recessive disease characterized by mutations of the cathepsin K gene on chromosome 1. This retrospective diagnosis has been disputed and other bone diseases proposed.

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