[Antenatal diagnosis of Lowe's syndrome based on histologic tests of the fetal eyes].
Parents who had previously given birth to a male with Lowe's syndrome were watched during a second pregnancy and a prenatal sex diagnosis was performed by amniocentesis. The fetus was a male and in proportion to the high rate of risk (50%), parents require to stop this second pregnancy. Instead of later renal failure and, of course, mental retardation, it was the histological features of the fetus eyes which permit to diagnose and exhibit both congenital cataract and irido-corneal angle dysgenesis.
D005128:Eye Diseases / Q000235:genetics / Q000473:pathology*; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis*
Contribution au diagnostic anténatal d'un syndrome de Lowe par l'examen histologique des yeux du foetus.