[Lowe's syndrome (author's transl)].
Concerning the clinical study, the oculo-cerebro-renal syndroms are well drawn and we nearly could say there is no syndrome of Lowe without a cataract. This conviction puts aside some oculo-cerebro-renal syndroms occured to female and easily called "Lowe's Syndrom". The glaucoma which exists in half of the cases, is scarcely a mechanical type, sometimes it is an usual congenital type with membrane of Barkan, but the more frequently, it is secondary to an alteration of all constitutive elements of the anterior uvea and of the camerular angle. Concerning inheritance, the absence of female cases among the PF observations confirm the recessive transmission attached to the sex, which is, in fact, definively established. Though the search of hererozygote females after an ophtalmological or biochimical observation has no absolute value, it anyway adds some very precious genetic requirements. Concerning the etio-pathogenic study, as we tried to show, the authors agree in simultaneous and contemporary appearance, between the 4th and the 6th month of the intra-uterine life of oculo-cerebro-renal troubles of Lowe's Syndrom and in the existence of a common factor, probably a genetic one. Anyway, we still have to precise the nature of the gene and the inter relations existing between the three injures.
D002386:Cataract / Q000473:pathology; D002675:Child, Preschool; D005901:Glaucoma / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008297:Male; D009420:Nervous System / Q000473:pathology; D009800:Oculocerebrorenal Syndrome / Q000235:genetics / Q000473:pathology*; D015499:Renal Tubular Transport, Inborn Errors / Q000473:pathology*
Le syndrome de Lowe.