Last updated 2mo ago
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A child has shallow orbits with proptosis (bulging eyes), midface hypoplasia, and a beaked nose. Skull imaging reveals multisuture craniosynostosis. Hearing is normal and hands are normal.
AD; FGFR2 (most common)
- Variable expression
- Craniosynostosis (multisuture, especially coronal)
- Midface hypoplasia, shallow orbits with proptosis
- Beaked nose
- Normal hands and feet (distinguishes from Apert, Pfeiffer)
- Normal intelligence (usually)
- Hearing loss (conductive)
- Clinical recognition: multisuture craniosynostosis with midface hypoplasia and proptosis but normal hands and feet
- Skull radiographs or CT confirm premature suture fusion; 3D CT guides surgical planning
- Molecular confirmation by FGFR2 sequencing; FGFR3 testing when acanthosis nigricans is present (Crouzon syndrome with acanthosis nigricans)
- Multidisciplinary craniofacial team coordination
- Staged cranial vault expansion, then midface advancement (Le Fort III/monobloc) for proptosis and airway
- Ophthalmology monitoring for corneal exposure from shallow orbits and proptosis
- ICP monitoring; surveillance for raised intracranial pressure and hydrocephalus
- Audiology for conductive hearing loss
"Cranium only": Crouzon affects the cranium only. Normal intelligence, no limb involvement, distinguishing it from Apert (syndactyly) and Pfeiffer (broad thumbs/toes).