Luis Morquio (1867-1935) was a famous
Uruguayan paediatrician. In 1929 he reported a form of familial
skeletal dystrophy that is to bear
his name Morquio's syndrome (mucopolysaccharidosis type IV). The
condition results from deficiency
of lysosoml enzymes. The features of Morquio's syndrome include
dysostosis multiplex, dwarfism,
pectus carinatum, kyphoscoliosis, short first metacarpal bones, genu
valgum, and other deformities.
The cornea shows diffuse cloudiness. Pailloedema can occur due to
optic nerve compression.