Scheie syndrome

Scheie syndrome
Classification and external resources
ICD-10 E76.0
OMIM 607016
Orphanet 93474

Scheie syndrome (also known as "MPS I-S") is less severe version of Hurler syndrome. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan.[1][2] People with this condition may have aortic regurgitation.[3]

Eponym

It is named after Harold Glendon Scheie (1909–1990), an American ophthalmologist.

See also

References

  1. Ropper AH, Samuels MA, "Chapter 37. Inherited Metabolic Diseases of the Nervous System" (Chapter). Ropper AH, Samuels MA: Adams and Victor's Principles of Neurology, 9e: http://www.accessmedicine.com/content.aspx?aID=3636356.
  2. Bonakdar-Pour, Akbar. Diagnostic Imaging of Musculoskeletal Diseases: A Systematic Approach.
  3. "Scheie syndrome - National Library of Medicine - PubMed Health". ncbi.nlm.nih.gov. Retrieved 19 January 2014.


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