Question 5181
Topic: 7. Hand and WristAn infant is born with severe micromelia, a "hitchhiker" thumb, clubfeet, and cystic swelling of the external ears that later calcify. Radiographs show a shortened first metacarpal. What is the primary biochemical defect in this disorder?
Correct Answer & Explanation
. Impaired sulfation of proteoglycans due to a sulfate transporter defect





