There have been just 200 cases described in literature. The syndrome is known clinically as pycnodysostosis (PYCD). PYCD causes brittle bones, as well as abnormalities of the face, hands ...

Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature. This rare disease, surprisingly, provides a window into ...