Know which child with a genetic syndrome may be a difficult intubation
Renée Roberts MD
What to Do – Interpret the Data
It is generally agreed upon that a difficult airway is a situation when problems exist in establishing adequate ventilation via mask or artificial airway. This situation can be both unanticipated and anticipated. The scope of this discussion will consist of the anticipated difficult airway caused from genetic syndromes with craniofacial disorders. Early recognition of these syndromes increases the likelihood of a possible difficult airway being identified and proper preparation occurring. This includes both proper equipment and additional skilled personnel.
There are multiple challenges involved in managing the airway of a patient with craniofacial disorders. A thorough understanding is needed of the normal anatomy, including both bony structures and soft tissue, and how these are affected by various disorders. The resulting abnormalities can affect airway management: ventilation, intubation, or both. Well-known congenital disorders that can affect the anatomy of the airway include Pierre Robin syndrome, Treacher Collins syndrome, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, Trisomy 21, Freeman-Sheldon syndrome, Goldenhar syndrome, craniofacial dysostosis (Apert syndrome), as well as mucopolysaccharidosis syndromes that include Hunter and Hurler syndromes. Following is a brief discussion of these disorders and their associated anatomic abnormalities.
Pierre Robin Syndrome
This disorder is characterized by severe micrognathia, glossoptosis, and cleft soft palate, or cleft lip. Relaxation of the soft tissue in the oropharynx can lead to total airway obstruction as the tongue falls posteriorly. Ventilation by mask can be difficult; therefore, airway management often requires additional planning and the availability of alternate methods and skilled providers to establish the airway. This can include the laryngeal mask airway and a fiberoptic scope.
Treacher Collins Syndrome
This disorder is characterized by maxillary, zygomatic, and mandibular hypoplasia. Additional features that can affect airway include a small mouth and high arched palate. Secondary issues
can consist of cleft palate and velopharyngeal incompetence. If temporomandibular joint abnormalities are present, mask ventilation and intubation can be very difficult, if not impossible. As patients age, airway issues become more difficult. Severe airway obstruction can occur and may necessitate a tracheostomy.
can consist of cleft palate and velopharyngeal incompetence. If temporomandibular joint abnormalities are present, mask ventilation and intubation can be very difficult, if not impossible. As patients age, airway issues become more difficult. Severe airway obstruction can occur and may necessitate a tracheostomy.