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
- ↑ 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.
- ↑ Bonakdar-Pour, Akbar. Diagnostic Imaging of Musculoskeletal Diseases: A Systematic Approach.
- ↑ "Scheie syndrome - National Library of Medicine - PubMed Health". ncbi.nlm.nih.gov. Retrieved 19 January 2014.
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