Luís Morquio

Luís Morquio (1867 - 1935)

Luís Morquio (1867 – 1935) was a Uruguayan paediatrician.

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Biography

  • Born 24 September 1867
  • 1887 – 1890 Medical degree, University of Montevideo
  • 1892 – MD, thesis on the treatment of typhoid fever.
  • 1893 – 1894 Further training in paediatrics in Paris at the Pasteur Institute and clinics of Marfan and Charcot
  • 1900 – Full Professor of Paediatrics, Montevideo
  • 1915 – Founder of Sociedad Uruguaya de Pediatría
  • 1930 – President of the International Save the Children Fund, Geneva
  • Died 19 June 1935

Medical Eponyms

Morquio syndrome (1929) [Morquio-Brailsford syndrome]

Severe form of skeletal dysplasia that had previously associated with cretinism and achondroplasia. Identified independently by Morquio and Brailsford in 1929. One of the group of hereditary specific lysosomal enzyme deficiencies which cause pathological accumulation and urinary excretion of incompletely degraded mucopolysaccharides. [mucopolysaccharidosis type IV]

Rare storage disease characterised by skeletal dysplasia (short trunk dwarfism); cervical cord compression; hepatomegaly; aortic incompetence; and deafness. Occurs in two forms depending on which gene is mutated:. A: with a deficiency of the enzyme galactosamine-6-sulphate sulphatase; B: with a deficiency of the enzyme B-galactosidase. Inheritance is autosomal recessive; familial influences are common.

1929 Morquio reported on a form of ‘familial skeletal dystrophy’ affecting four of five children born to consanguineous parents of Swedish descent.

1929 Brailsford provided an independent account of the clinical and radiological features of a child with ‘chondro-osteo-dystrophy


Key Medical Attributions


Controversies


Major Publications


References

Luis Morquio stamp - Stanley Gibbons 1411
Luis Morquio stamp

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Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

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