Tag Hameed Rafiee MBBS FRCR

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Achondroplasia An AD (80% new mutation rate) skeletal dysplasia due to impaired enchondral bone growth. Skull 1. Large skull. Small base. Small sella. Steep clivus. Small, funnel-shaped foramen magnum. 2. Hydrocephalus of variable severity. Thorax 1. Thick, stubby sternum. 2.…