Pierre-Robin sequence

Learning objectives

Describe Pierre-Robin sequence
Outline the anesthetic management considerations for patients with Pierre-Robin sequence
Summarize the anticipated complications during the intraoperative and postoperative period among patients with Pierre-Robin sequence
Describe the common intubation methods before administering general anesthesia among patients with Pierre-Robin sequence

Pierre-Robin sequence (PRS), previously known as Pierre-Robin syndrome, is a rare congenital birth defect characterized by facial abnormalities
The three main features are micrognathia (mandibular hypoplasia), which causes glossoptosis (posterior displacement or retractation of the tongue), which in turn causes breathing problems due to upper airway obstruction
A wide, U-shaped cleft palate is commonly present in children with PRS
Airway obstruction and respiratory distress are clinical hallmarks of PRS
At birth, neonates mainly show signs of respiratory distress (i.e., stridor, retractions, and cyanosis); some manifest with feeding difficulties, gastroesophageal reflux, aspiration, and failure to thrive
PRS is more a sequence than syndrome, because one initial malformation leads to a sequential chain of events causing the other anomalies
PRS can occur as an isolated mandibular abnormality but is more often part of an underlying disorder or syndrome (e.g., fetal alcohol syndrome, Stickler syndrome, Treacher-Collins syndrome, and velocardiofacial syndrome)

Associated syndrome	Associated anomalies	Anesthetic concerns
Fetal alcohol syndrome	Microcephaly, maxillary hypoplasia, micrognathia, short neck, ventricular septal defect, cognitive developmental delay, hyperactivity	May be difficult to ventilate and intubate Preoperative echo indicated Consider subacute bacterial endocarditis prophylaxis May be uncooperative
Stickler syndrome	Marfanoid appearance, airway obstruction, micrognathia, joint laxity, mitral valve prolapse	May be difficult to ventilate and intubate Care with positioning
Treacher-Collins syndrome	Craniofacial clefting, mandibular hypoplasia, may have obstructive sleep apnea, may have congenital heart disease	May be difficult or impossible to intubate Preoperative echo indicated Consider subacute bacterial endocarditis prophylaxis
Velocardiofacial (DiGeorge) syndrome	Microdeletion of chromosome 22, microcephaly, micrognathia, congenital heart disease, may have developmental delay, neonatal hypocalcemia, T-cell immune deficiency	May be difficult to intubate Preoperative echo indicated Consider subacute bacterial endocarditis prophylaxis Blood products need to be irradiated

Underdeveloped mandible and small chin
Posterior displacement or retraction of the tongue due to the small mandible
Obstructive sleep apnea (OSA) and upper airway obstruction due to tongue that falls toward the throat
High-arched palate (roof of the mouth)
Cleft palate (opening in the roof of the mouth)
Natal teeth (teeth that are visible at birth)
Dysphagia (difficulty swallowing)
Repeated upper respiratory tract and ear infections
Temporary hearing loss due to fluid buildup behind the ear (middle ear effusion), a common symptom of cleft palate
Speech difficulty

Intrauterine compression of fetal mandible
De-novo mutations on chromosomes 2 (possibly GAD1 gene), 4, 11 (possibly PVRL1 gene), or 17 (possibly SOX9 or KCNJ2 gene)

Short-term complications are due to upper airway obstruction

Long-term complications are due to hypoxic injury and inability to feed well

Left untreated, PRS can be fatal
Children usually reach full development and size
General prognosis is good once the initial breathing and feeding difficulties are overcome in infancy

Mild airway obstruction: Manage conservatively with nasopharyngeal airways (NPAs), prone positioning, and mechanical feeders
Moderate or severe obstruction: Requires invasive interventions such as gastrostomy tube placement, tongue-lip adhesion (TLA), mandibular distraction osteogenesis (MDO), and tracheostomy

Airway is challenging to ventilate and intubate due to craniofacial dysmorphology
- Maintaining a seal for ventilation (facemask) can be challenging due to facial deformities
- Direct laryngoscopy and tracheal intubation are difficult during infancy but become more manageable with age and (mandibular) growth
Postoperatively, patients can spontaneously develop airway collapse
- Occur due to preexisting airway obstruction, possible OSA, chronic hypoxia, and increased opioid sensitivity
- Diagnosed with paradoxical breathing patterns, intercostal indrawing, subcostal, sternal recession, and tracheal tug
Neonates are increasingly sensitive to opioids
- Infants who develop OSA due to glossoptosis have increased opioid sensitivity due to the upregulation of opioid receptors in the brainstem
- Patients with severe obstruction have reduced opioid requirements and require careful dose adjustments
Feeding difficulties, swallowing disorders, and co-existing gastroesophageal reflux are frequently complicated by bronchial microaspirations and pulmonary infections → implement aspiration precautions before elective procedures
Malnutrition and associated failure to thrive due to difficulties with feeding and airway

Preoperative management

History includes micrognathia, glossoptosis, and airway obstruction; additionally, a cleft palate may be present but this is not a required feature of PRS
PRS can be seen as an isolated anomaly or as part of other syndromes
Perform induction with a pediatric otolaryngology present in the OR with emergency bronchoscopy and tracheostomy equipment

Anesthetic management

Postoperative management

Acute postoperative airway obstruction may result in hypoxia, negative pressure pulmonary edema, and death
Patients are prone to postoperative respiratory complications (i.e., airway obstruction, oxygen desaturation, and an escalation of postoperative respiratory care) from airway obstructions due to previous airway obstruction, opioid sensitivity (associated with OSA), and surgically induced airway edema (release the mouth retractor periodically to minimize the risk of postoperative tongue edema)
Maximize nonopioid analgesics including local anesthetic (regional blocks or local infiltration), acetaminophen, and ketorolac
Reduce opioid doses
Observe patients in a monitored setting with pulse oximetry

The primary concern in PRS is upper airway obstruction with subsequent respiratory distress and feeding difficulty
Feeding difficulty may manifest as gastroesophageal reflux and failure to thrive