Paediatric ophthalmology

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.

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