- A dictionary of medical eponyms

Morquio's syndrome B

Alternative eponyms

  • Morquio-like syndrome

Related people

Marquio-Brailsford syndrome with a milder phenotype.

Description

A form of mucopolysaccharidosis with faulty breakdown of keratin sulphate due to b-galactosidase deficiency, marked by a milder phenotype than Morquio-Brailsford. Characteristics include short stature, mild pectus carinatum, corneal clouding, odontoid hypoplasia, cervical instability, mild dysostosis multiplex, moderate kyphosis, and mild genua valga.

Bibliography

  • J. B. Wyngaarden, L. H. Smith, Jr., editors:
    Cecil textbook of medicine. 17th edition, Philadelphia, Saunders, 1985, page 1148.
  • H. Groebe, et al:
    Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
    American Journal of Human Genetics, Chicago, 1980, 32: 258-272.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.