In Lowe syndrome, all of the following are seen except: September 2007
Ans. C: Hypeonia Oculocerebrorenal dystrophy/OCRL/ Lowe syndrome is an inherited disorder linked to the X (female) chromosome. Most of the individuals affected by it, therefore, are male, since males have only one X chromosome. There are three main symptoms which are present in all individuals with OCRL: Cataracts in one or both eyes at bih Low muscle tone and weakness (hypotonia) Kidney dysfunction - the kidneys may functions normally at bih, but abnormal function is present often by 1 year old. In addition, individuals may have symptoms such as: Mental retardation ? Seizures - usually in young children with the syndrome Behavior problems Glaucoma -often in both eyes Bone weakness - Many individuals with OCRL have bone fractures, especially in the leg bones when learning to walk. About one-third of individuals have more than one fracture. Undescended testicles in boys.
Undescended testes in males
Cataract
Hypeonia
Low IQ