Crouzon Syndrome (Craniofacial dysostosis)
also see Craniosynostosis
- Premature closure of coronal sutures (other sutures like sagittal
and lambdoid might also be fused)
- "Crouzon-Coronal-Can't hear"
- Autosomal dominant w/ variable expression; 25% new mutations
- Gene locus 10q26, FGFR2 gene (same as Apert)
- Physical features
- Frontal bossing
- ocular proptosis due to shallow orbits
(like Apert)
- hypertelorism; severe cases might show a clover-leaf skull
- hooked nose
- small jaw (maxillary hypoplasia)
- conductive hearing loss, optic atrophy
- Pertinent negatives
- No hand involvement (vs Apert), intelligence is usually normal
(50% MR in Apert)
For boards, ddx
Apert Syndrome,
Pfeiffer Syndrome.
Suture review
midline forehead: metopic
midline: sagittal
anteriolateral: coronal
posterolateral: lambdoid

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes