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.

Lowe syndrome

Oculocerebrorenal syndrome, see there.

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.

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
References in periodicals archive ?
Rod Stewart's wife seems like a lovely girl and her involvement with the charity to raise money for Lowe syndrome, and help disabled children, is admirable.
And this was his way to raise money and awareness for the rare genetic disease called Lowe Syndrome that caused his son's death.
CORVALLIS - The father of a boy who recently died of Lowe syndrome plans to skateboard across the country with three others to raise money for medical research on the rare genetic disorder.
Spot urine samples were obtained from 41 healthy children (16 males and 25 females; age range, 0-18 years) and 41 patients (23 males and 18 females; age range, 0-19 years) with renal diseases, including nephrotic syndrome (acute and remission phases), chronic glomerulonephritis such as IgA nephropathy and anaphylactoid purpura glomerulonephritis, renal anomaly, acute renal failure, and those with renal proximal tubular damage, including Lowe syndrome and Dent disease.
She had started using methamphetamine after her sons were born with Lowe Syndrome, a rare, genetic disease characterized by blindness, seizures and kidney problems.
I was honoured to be involved in the BGC Charity Day to help raise money for my chosen charity, the Lowe Syndrome Trust.