Craniofacial dysostosis

Learning objectives

• Definition and examples of craniofacial dysostosis
• Perioperative management of craniofacial dysostosis

Definition and mechanisms

• Craniofacial dysostosis or craniosynostosis is a condition in which premature fusion of one or more of the cranial sutures occurs, leading to abnormal skull development and head shape
• Abnormal premature fusion of one or several of these sutures results in restricted growth of the skull perpendicular to the affected suture
• Compensatory bone growth occurs parallel to the affected suture in order to allow for continued brain growth and results in distinct clinical skull characteristics
• Children may present with a broad range of conditions requiring correction, from otherwise well children with single suture craniosynostosis (80% of cases) to syndromic children with multiple synostoses with other cranial and extracranial anomalies
• Syndromes most frequently associated with craniosynostosis include:  
  • Crouzon syndrome: 
    • The most common craniofacial dysostosis syndrome
  • Apert syndrome: 
    • Is similar to Crouzon syndrome but is more severe
    • Craniofacial characteristics of Crouzon syndrome and syndactyly (webbing of finger and toe) in addition
    • Intellectual disability is also more common in Apert syndrome
  • Pfeiffer syndrome: 
    • Craniofacial characteristics and hand and feet abnormalities are also present (wide and deviated thumbs or big toes) 
    • Mental and neurological problems are more likely
• Caused by an inherited or spontaneous autosomal dominant mutation in the fibroblast growth factor receptor 2 (FGFR2) located on chromosome 10
• Incidence is 1 in 2500 live births
• Correction may require extensive surgery that is commonly performed at a young age

Signs and symptoms

• Wide-set eyes (hypertelorism)
• Bulging eyeballs (proptosis)
• Crossed eyes (strabismus)
• Protruding forehead
• Small, beak-shaped nose
• Underdeveloped jaw
• Cleft lip and/or palate
• Abnormal head shape
• Insufficient growth of the midface

Complications

• Vision problems
• Dental problems
• Hearing loss
• Breathing problems
• Hydrocephalus
• Rarely, intellectual disability

Diagnosis

• Physical appearance
• MRI/CT
• Genetic testing

Treatment

• Surgical reconstruction (LeFort osteotomies) to prevent the closure of sutures of the skull from damaging the brain’s development

Anesthetic management

Suggested reading

• Pollard BJ, Kitchen, G. Handbook of Clinical Anaesthesia. Fourth Edition. CRC Press. 2018. 978-1-4987-6289-2.
• Pearson, A., Matava, C.T., 2016. Anaesthetic management for craniosynostosis repair in children. BJA Education 16, 410–416.
• Posnick JC, Ruiz RL. The craniofacial dysostosis syndromes: current surgical thinking and future directions. Cleft Palate Craniofac J. 2000;37(5):433. 

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