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Pediatrics General da8cec02

Lowe's syndrome is characterised by the following except –

A
Hypophosphatamic rickets
B
Undescended testes
C
Defect in the CNS and eyes
D
Aminoaciduria
High-Yield Explanation
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

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