Lowe’s syndrome is characterised by the following except –
Correct Answer: Undescended testes
Description: Lowe's syndrome
It is also known as an oculocerebrorenal syndrome of Lowe.
It is an X-linked disorder.
It is characterized by :
i) Congenital cataract
ii) Mental retardation
iii) Fanconi syndrome → Aminoaciduria
The disease is caused by a mutation in the OCRL1 gene, which encodes the phosphatidylinosital polyphosphate 5-phasphatasq.
Clinical features
Progressive growth failure o Hypotonia
Blindness
Fanconi syndrome
Renal inefficiency
Behavioural problems
Significant proteinuria
Category:
Pediatrics
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