Craniosynostosis

Fusion of the cranial sutures.

• Primary vs. Secondary
• Synostosis of a single suture  -> cosmetic issues
• Synostosis of >1 suture may cause hydrocephalus, severe disorders and proptosis (leads to exposure keratopathy and amblyopia).

Types of craniosynostosis

• Trigonocephaly: Fusion of metopic suture
• Brachycephaly: Fusion of bilateral coronal or lamboid sutures
• Plagiocephaly: Fusion of unilateral coronal or lamboid suture
• Dolichocephaly: Fusion of sagittal suture

Harlequin sign: occurs with premature fusion of the coronal suture. (notice the line ascending from the upper lateral left corner of orbit)

3 main syndromes associated with craniosynostosis:

1. Crouzon Syndrome
2. Apert Syndrome
3. Pfeiffer Syndrome

What is the common defect in all three syndromes? Abnormal fibroblast growth factor receptor 2 on chromosome 10.

Treatment goals:

• Free sutures to allow normal brain growth and skull expansion.
• To prevent complications or ICP, Proptosis