Prevalence: 1/8000. Association of micrognathia, glossoptosis and airway obstruction. A cleft palate is present in 90% of cases. Sometimes there is an associated dysfunction of the brainstem with  central and obstructive apneas, esophageal motor abnormalities (sucking and swallowing disorders, gastroesophageal reflux) and cardiac vagal hyperreactivity. The two main problems in the neonatal period are difficulties in breathing and feeding  (which often require the insertion of a percutaneous or surgical gastrostomy).

The distinction between the syndromic and nonsyndromic (or isolated) Pierre-Robin sequence is no longer used because the diversity of phenotypes is too large, even if the management for nonsyndromic forms is generally simpler.

The table lists the syndromes in which a Pierre-Robin sequence is common.

  Frequent:

      - Stickler syndrome

      - microdeletion 22q11

  Rarer:

* skeletal Dysplasias

     - congenital spondyloepiphyseal dysplasia

     - Kniest syndrome

     - diastophic dysplasia

     - campomelic dysplasia

     - striated osteopathy with cranial sclerosis

     - Marshall syndrome

     - oto-palato-digital syndrome type II

* monogenic dysmorphic syndromes

     - Treacher-Collins syndrome

     - Swim syndrome

     - Miller syndrome

     - Catel-Manzke syndrome

     - cerebro-costo-mandibular syndrome

     - congenital anomaly of glycosylation IIg (resembles the previous)

     - Kabuki syndrome

     - Toriello-Carey syndrome

* Neurological pathologies

     - congenital myotonia, neonatal form

     - Carey-Fineman-Ziter syndrome

* chromosomal abnormalities

     - deletion 4q32-qter

     - deletion 2q24-q33

     - duplication 11q21-q23

     - deletion 17q21

* Fetal toxicity

     - fetal alcohol syndrome

     - maternal diabetes

* various

     - TARP syndrome

     - Robin sequence associated with mandibular cleft and the defects

     - distal arthrogryposis and Robin sequence

Clinical evaluation:

-        clinical signs of respiratory distress and influence of body positioning (supine vs prone), pulse oximetry when breathing room air:  airway obstruction frequently improves in the prone position ; a nasopharyngeal  airway is generally very effective

-        CT scan of the skull to evaluate bone and soft tissue

-        flexible laryngotracheoscopy: laryngeal anomalies (malacia ?), pharyngeal collapse at inspiration ? regurgitation of milk to the larynx during or following feeding ?

-        polysomnography: central apnea ? obstructive apnea ? number ? desaturation ?

-        systematic medical treatment of the a gastro-esophageal reflux

There are 3 clinical stages of gravity:

-        I: purely anatomical abnormalities without major dysorality nor important breathing disorders. Only occasional gastroesophageal reflux or vagal hyperreactivity;

-        II: suction-swallowing and esophageal motor abnormalities requiring gastric gavage or even a gastrostomy; constant vagal hyperreactivity; breathing disorders manageable with nursing: prone positioning, nasopharyngeal airway during sleep, suture of the tongue to the lower lip (glossopexy).

-        III: all signs of stage II are present but the breathing disorders are major; sometimes  it is  sometimes necessary to resort to a tracheostomy.

Some teams perform a gradual (for 12-16 weeks) mandibular distraction in the neonatal period provided airway obstruction is limited to the oropharynx (no  associated laryngeal nor tracheal anomalies).

Anesthetic implications:

-        difficult intubation: use an anesthetic technique that preserves spontaneous ventilation until the trachea is intubated. Videolaryngoscopy: oral intubation with a fibroscope through a supraglottic device; nasal intubation with a fibroscope sliding behind a laryngeal mask slightly displaced outside the oropharynx to give some room for the fibroscope

-        sometimes  difficult or impossible ventilation: be ready to handle a cannot intubate-cannot oxygenate (CICO) situation. A supraglottic or nasapharyngeal airway should be ready for use

-        risk of obstruction of the upper airway during emergence of anesthesia.

-        increased sensitivity to opioids  in case of chronic hypoxemia

-        vagal hypertonia in case ofsuction-swallowing associated disturbances

-        obstruction of the upper airway and the difficulty of intubation decrease in principle with age.

References : 

• Jones SE, Derrick GM. 
  Difficult intubation in an infant with Pierre Robin syndrome and concomitant tongue tie. 
  Paediatr Anaesth 1998; 8:510-1.
• Benjamin B, Walker P. 
  Management of airway obstruction in the Pierre Robin sequence. 
  Int J Pediatr Otorhinolaryngol 1991; 22:29-37.
• Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML. 
  Robin sequence: from diagnosis to development of an effective management plan. 
  Pediatrics 2011; 127: 936-48.
• Cladis F, Kumar A, Grunwaldt L, Ottenson T, Ford M, Losee JE. 
  Pierre Robin sequence: a perioperative review. 
  Anesth Analg 2014 ; 119 : 400-12. 
• Fayoux P, Daniel SJ, Allen G, Balakrishnan K, Boudewyns A et al.
  International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations.
  Int J Pediatr Otorhinolaryngol 2020; 130: in press
• Phillips M, Jagannathan N.
  Placement of a supraglottic airway to overcome airway obstruction when performing nasal fiberoptic intubation in infants with Pierre Robin sequence : a case series.
  A&A Practice 2020 ; 14 e01302

Updated: February 2021