Lowe's syndrome is characterised by the following except-: (A) Hypophosphatamic rickets, (B) Undescended testes, (C) Defect in the CNS and eyes, (D) Aminoaciduria
Answer is B. Ans. is 'b' i.e., Undescendended testes Lowe's syndrome It is also known as oculocerebrorenal syndrome of Lowe. o It is X-linked disorder. It is characterized by : i) Congenital cataract ii) Mental retardation iii) Fanconi syndrome --> Aminoacidurina o The disease is caused by mutation in the OCRL1 gene, which encodes the phosphatidylinosital polyphosphate 5-phasphatase. Clinical features Progressive growth failure Hypotonia Fanconi syndrome Significant proteinuria Blindness Renal infufficiency Behavioural problems