[Lowe's oculo-cerebro-renal syndrome].
نویسنده
چکیده
منابع مشابه
Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.
The mother and daughter in a family had homozygous cystinuria and were also heterozygous carriers of the oculo-cerebro-renal dystrophy of Lowe. The daughter was also epileptic. The son had Lowe's syndrome and the father an increased urinary excretion of cystine and lysine. This evidence together with other case reports suggests that the defect in cystinuria and that of Lowe's syndrome may be co...
متن کاملOculo-cerebro-renal syndrome. Report of a case in a baby girl.
The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genet...
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We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features of which were epilepsy, cataracts, renal tubular necrosis and an encephalopathy comprising micrencephaly, lack of myelination and cerebellar dysplasia. The condition resembles the so-called Marinesco-Sjogren syndrome and also the oculo-cerebro-renal (Lowe's) syndrome...
متن کاملReport of a case in a baby girl
The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genet...
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22q11.2 duplication syndrome (OMIM #608363) was first described by Edelmann in 1999 and later by other groups. The syndrome presented with clinically normal to varied spectrum of multisystem involvement. The 22q11.2 duplication syndrome in comparison to the 22q11.2 micro-deletion is a relatively rare condition which inherited autosomal dominantly or may occur as de novo condition. This article ...
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عنوان ژورنال:
- Bulletin des societes d'ophtalmologie de France
دوره 73 2 شماره
صفحات -
تاریخ انتشار 1973