Crouzon Syndrome

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Crouzon Syndrome is a type of Craniosynostosis and is a Craniofacial Syndrome.

  • Also known as "Craniofacial Dysostosis".
  • First described in 1912 by the french neurosurgeon, Octave Crouzon.
  • Due to craniosynostosis which produces characteristic facial features and skull shape.
  • Hereditary (autosomal dominant)
  • Craniofacial morphology is similar to Apert Syndrome


Contents

Incidence

  • Incidence = 1 in 60 000 approximately
  • No Sex or Ethnicity predilection.


Aetiology

Crouzon Syndrome is caused by mutations in the gene for the protein: Fibroblast Growth Factor Receptor 2 (FGFR2)

  • Involved in differentiating cells to become bone during embroyological development.
  • Mutations are thought to augment FGFR2 signalling, resulting in premature skull suture fusion
  • FGFR2 is also implicated in Apert Syndrome


Inheritance is autosomal dominant.

  • Spontaneous mutation occurs (~25%).


Clinical features

Craniosynostosis lead to abnormal skull growth, with resulant typical facies and shape of the head. Intelligence is usually normal.


Typical features:

  • Craniosynostosis
    • Commonly bi-coronal --> brachycephaly / oxycephaly. (See Skull Growth Patterns).
    • Lambdoid sutures
    • Sagittal sutures (occasional)
  • Marked Orbital Hypertelorism, shallow orbits and marked proptosis
    • Strabismus
    • visual problems
  • Beaked nose
  • Hypoplastic maxilla / "midface hypoplasia"
    • resultant nasal airway obstruction
  • Narrow external auditory meatus / conductive deafness
  • Dental malocclusion and crowding
    • Mandibular prognathism
  • Cleft palate (occasional)
  • CNS:
    • Hydrocephalus may occur
    • 3/4 have chronic tonsillar herniation


Management

Surgery to treat the craniosynostosis is usually performed at 4-6 months of age

  • Repeat craniotomy may be required during infancy
  • Ventriculo-peritoneal shunts are frequently needed to treat hydrocephalus.


Reconstruction of the midface is often attempted between 4 and 6 years of age.


Rhinoplasty and surgery to correct the dental malocclusion may be required.


Long term social, educational and emotional support will be required.

  • Speech therapy
  • Genetic couselling


Prognosis

Dependent of severity of the deformity and its secondary effects, particularly with reference to intra-cranial volume and pressure.


Life expectancy is usually normal.


References

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