Apert Syndrome (Acrocephalosyndactyly Type 1 and 2)




Risk





  • 15:1,000,000 live births



  • Equal M:F ratio





Perioperative Risk





  • Aspiration



  • Bronchospasm



  • Resp depression



  • Airway obstruction





Perioperative Risk





  • Aspiration



  • Bronchospasm



  • Resp depression



  • Airway obstruction





Worry About





  • Difficult mask, airway, or IV access



  • Elevated intracranial pressure, temperature dysregulation, and seizures



  • Corneal abrasions (due to exophthalmos)



  • PACU and perioperative monitoring for apnea



  • Cardiac anomalies (10% of cases)



  • Anatomic anomalies (regional/neuraxial anesthesia)





Overview





  • Apert syndrome is a disorder identified by synostoses of the cranium, vertebral bodies, and digits. It is caused by a mutation in the FGFR-2 gene.



  • Two major manifestations are bicoronal synostosis and maxillary hypoplasia. High-arched V-shaped palates and cleft palates are common.



  • Strabismus, syndactyly, and conductive and neuronal hearing loss are common manifestations.



  • Cognitive delay (IQ <70) see in 67% of pts.





Etiology





  • Autosomal dominate disorder; however, most cases are sporadic mutations of the FGFR-2 gene.



  • Sporadic mutations are associated with paternal age >40 y.


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Sep 1, 2018 | Posted by in ANESTHESIA | Comments Off on Apert Syndrome (Acrocephalosyndactyly Type 1 and 2)

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