Toulouse-lautrec syndrome cause

  • toulouse lautrec syndrome legs

    • Pycnodysostosis

    Metabolic disorder leading to high bone density and malformation

    Medical condition

    Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone'[1]) is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzymecathepsin K.[2] It is also known as PKND and PYCD.[3]

    History

    The disease was first described by Maroteaux and Lamy in 1962[4][5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible.[6] The defective gene responsible for the disease was discovered in 1996.[7] The French painter Henri de Toulouse