[MIM 123 500]

(Craniofacial dysostosis, Oxycephaly-acrocephaly, Virchow oxycephaly)

Prevalence: 1/50.000. Transmission: autosomal dominant of a mutation of the gene FGFR2 (10q26) in 60% of tested patients. Craniofacial dysostosis with hypertelorism, exophthalmos and midface hypoplasia, inversion of the dental bite, choanal stenosis or atresia and, frequently, a fusion of the C2 - C3 vertebrae. A special form is associated with acanthosis nigricans (specific mutation in the FGFR3 gene).

In some cases (mostly FGR2 mutations), the tracheal rings do not develop and are replaced by a rigid continuous cartilaginous sleeve ("tracheal cartilaginous sleeve') with a tendency towards proliferation of intraluminal granulation tissue (picture of '8' or 'keyhole') and a smaller than average tracheal diameter: it manifests itself by a biphasic stridor and ventilation difficulties and is often an indication of tracheostomy.

Progressive hearing loss is often present as a result of the compression of the auditory nerve at the base of the skull and of  cartilaginous anomalies  in the inner ear.

 

Anesthetic implications: 

difficult intubation. Eye protection. Breathing problems during sleep: obstructive or central apnea. Risk of severe obstruction of the upper airway at induction: a nasopharyngeal tube or a laryngeal mask is useful. The laryngoscopy is usually easy , but it  can become difficult after fronto-facial maxillary distraction. In case of difficult ventilation, suspect the presence of a tracheal malformation (cartilaginous sleeve). In case of tracheotomy: significant risk of obstruction by granulation tissue. Avoid N2O in case of hearing problems.

References : 

-        Addo NK, Javadpour S, Kandasamy J, Sillifant P, May P, Sinha A. 
Central sleep apnea and associated Chiari malformation in children with syndromic craniosynostosis: treatment and outcome data from a supraregional craniofacial center. 
J Neurosurg Pediatrics 2013; 296-301.

-        Scheid SC, Spector AR, Luft JD. 
Tracheal cartilaginous sleeve in Crouzon syndrome. 
Int J Pediatr Otorhinolaryngol 2002; 65: 147-52.

-        Lertsburapa K, Schroeder JW Jr, Sullivan C. 
Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. 
J Pediatr Surg 2010; 45: 1438-44.

-        Goldberg Butler C, Kenna MA, Nargozian CD.
Postoperative hearing loss in a patient with Crouzon syndrome : a case report.
A&A Practice 2018 ; 10 : 310-1. 

-        Jain A, Kumar P, Bhagat H.
An infant with Crouzon syndrome presenting with reversible chronic airway obstruction.
Anesthesiology 2020 ; 132 : 1555

-        Venkat Raman V, de Beer D.
Perioperative airway complications in infants and children xith Crouzon and Pfeiffer syndromes : a single-center experience.
Pediatr Anesth 2021 ; 31 : 1316-24.

-        Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC et al.
Complex airway management in patients with tracheal cartilaginous sleeves.
Laryngoscope 2022; 132:215-21

Updated: January 2022