Craniofacial dysostosis - NYSORA

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Craniofacial dysostosis

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

Craniofacial dysostosis, obstructive sleep apnea, midface hypoplasia, mask ventilation, venous air embolism, blood transfusion

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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