Morquio's syndrome B
Marquio-Brailsford syndrome with a milder phenotype.
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.
- 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.
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