Spot Diagnosis

Apert's syndrome



Question :
This child has complete syndactyly of all 4 limbs and flat facial profile.



What is the genetic disorder?

Discussion :
Apert’s syndrome. These children presented with irregular craniosynostosis with high, full forehead and flat occiput and early fusion of the coronal sutures. They have varying form of osseous and/or cutaneous syndactyly leading to total or partial fusion of fingers and toes. The major complication is increased intracranial pressure due to craniosynostosis for which early surgery may be required. It is an autosomal dominant condition with most cases being fresh mutations

Correct Answers : yes  34%

Last Shown : Aug 2004
 
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