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 ...

Bone remodeling consists of two phases—bone resorption and bone formation—that are normally balanced. When bone resorption exceeds bone formation, pathologic processes, such as osteoporosis ...

Pycnodysostosis (Genetic Lysosomal Storage Disorder of the Bones) - References About Causes Symptom & Signs Diagnosis FAQs Glossary Latest Publications Written by - Dr. Simi Paknikar, MD Medically ...

Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.