[MIM 101 200]

(Acrocephalosyndactyly type I)

Prevalence: 1/50.000.  Syndromic craniosynostosis. Autosomal dominant transmission, even if most cases are sporadic.  Every patient has one of the two adjacent mutations (Ser252Trp and Pro253Arg) of the FGFR2 gene (Fibroblast Growth Factor Receptor-2) (10q26).

Clinical presentation: wide face with midface hypoplasia and a beaked nose , hypertelorism with proptosis, synostosis of the coronal suture and the bones of the skull base, intracranial hypertension, syndactyly of fingers and toes, often congenital heart disease, and fusion of cervical vertebrae usually at the C5 - C6 level  (71 %).

Sometimes (10 %, mostly FGR2 mutations) some of the tracheal rings do not develop and are replaced by a rigid continuous cartilaginous tube ("tracheal cartilaginous sleeve") with a tendency for proliferation of intraluminal granulation tissue ('8' or  keyhole shape image) with a smaller than average tracheal diameter: it results in a biphasic stridor and ventilation difficulties. The presence of a 'tracheal cartilaginous sleeve' makes a tracheotomy very difficult to perform due to the absence of anatomic landmarks. Other cases present as a fusion of the tracheal rings ('bamboo-like' trachea) with progressive tracheal stenosis.

Sometimes: associated brain anomalies or congenital diaphragmatic hernia.

Anesthetic implications: 

Obstructive sleep apnea. Although intubation is foreseen as difficult it is generally easy: maxillary hypoplasia, fusion of cervical vertebrae, sometimes stenosis or choanal atresia. Frequent laryngo- or tracheomalacia, obstructive sleep apneas: a preoperative ENT evaluation is useful (cartilaginous sleeve or tracheal stenosis ?). Risk of bronchospasm. Difficult venous access. Warning: the surgical correction of mandibular hypoplasia may render intubation more difficult.

A case of intraoperative hypoglycemia  requiring very large doses of IV glucose has been described: blood glucose and blood electrolyte monitoring. In case of respiratory problems, suspect a tracheal malformation (cartilaginous sleeve). In case of tracheotomy: significant risk of obstruction by granulation tissue.

References : 

• Meyer P, Renier D, Blanot S, Orliaguet G, Arnaud E, Lajeunie E. 
  Anesthesia and intensive care of craniostenosis and craniofacial dysmorphism in children. 
  Ann Fr Anesth Reanim 1997; 16:152-64.
• Sculerati N, Gottlieb MD, Zimbler MS, Chibbaro PD.McCarthy JG. 
  Airway management in children with major craniofacial anomalies. 
  Laryngoscope 1998; 108:1806-12.

• Barnett S, Moloney C, Bingham R. 
  Perioperative complications in children with Apert syndrome: a review of 509 cases. 
  Pediatr Anesth 2011. 21: 72-7.
• 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.
• Hochhod C, Luckner G, Strohmenger U, Scholl-Bürgi S, Paal P. 
  Intraoperative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery. 
  Pediatr Anesth 2014; 24: 352-4. 
• Mathews F, Shaffer AD, Georg MW,  Ford MD et al.
  Airway anomalies in patients with craniosynostosis.
  The Laryngoscope , 2019 ; 129 : 2594-2602 
• Kaura R, Mishraa P, Kumarb S, Sankarb MJ, Kabraa M, Guptaa N.
  Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.
  Clinical Dysmorphology 2019, 28:78–80
• Garcia-Marcinkiewicz AL, Stricker PA.
  Craniofacial surgery and specific airway problems.
  Pediatr Anesth 2020; 30: 296-303.
• 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: November 2023