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Chapter: 11 / Q: 11.17
The following are ocular maniftations of albinism EXCEPT
Chapter: 11 / Q: 11.18
A 6-year-old tall and thin boy who had failed preparatory exam for schoolentry found to have myopia and subluxation of the ocular lens
Chapter: 11 / Q: 11.19
A 6-year-old girl that looks tall and thin with light skin. On examination she has a peculiar malar flush
Chapter: 11 / Q: 11.20
The MOST appropriate treatment of homocystinuria is
Chapter: 11 / Q: 11.21
The diagnosis of homocystinuria is usually made after 3 yr of age when the ophthalmologist found
Chapter: 11 / Q: 11.22
An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise
Chapter: 11 / Q: 11.23
One of the following is a characteristic feature for both Infantile Sandhoff disease and Tay-Sachs disease
Chapter: 11 / Q: 11.24
A 12-year-old boy presented with epistaxis, mild bruising, intermittent bone pain, and massive splenomegaly
Chapter: 11 / Q: 11.25
A 9-year-old boy admintted to the hospital because of fracture of left femur due to a minor trauma
Chapter: 11 / Q: 11.26
A 2- year-old boy presented with failure to thrive, rgression of developmental milestone
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