Oculo-cerebro-renal syndrome (Lowe's syndrome).
Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heredity are discussed.
Chen
Y
Y
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
Pang
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G
D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D010375:Pedigree