Lowe syndrome
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oc·u·lo·cer·e·bro·re·nal syn·drome
[MIM*309000]a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq.
Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome
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Lowe syndrome
Oculocerebrorenal syndrome, see there.McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Lowe syndrome
(lō) [Charles U. Lowe, U.S. pediatrician, b. 1921]
Oculocerebrorenal dystrophy characterized by hypotonia, loss of reflexes, mental deterioration, glaucoma, cataracts, and renal tubular dysfunction. The syndrome is transmitted as a sex-linked recessive.
Medical Dictionary, © 2009 Farlex and Partners
Lowe,
Charles U., U.S. pediatrician, 1921–.Lowe syndrome - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndrome
Lowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome
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