Pierre-Robin Sequence/Cleft Palate-Related Airway Obstruction Seen in Neonates

KEY POINTS

1.
Pierre Robin sequence (PRS) is an association of congenital micrognathia, glossoptosis, and cleft palate that presents with tongue-based airway obstruction.
2.
Infants with PRS can present with a host of findings ranging from severe respiratory distress to mild feeding difficulties.
3.
Evaluation of an infant found to have PRS should include direct visualization of the airway with flexible laryngoscopy, assessment of adjunctive measures to relieve airway obstruction (e.g., prone positioning, nasal trumpet), and evaluation of feeding and weight gain.
4.
Nonsurgical treatment options include prone positioning, oropharyngeal or nasopharyngeal airway, continuous positive airway pressure, and endotracheal intubation.
5.
Surgical options considered if nonsurgical management fails include tongue-lip adhesion, subperiosteal release of floor of mouth, mandibular distraction osteogenesis, and tracheostomy.
6.
The majority of infants with PRS can be managed nonsurgically, although many will initially require nasogastric tube feeding and possibly gastrostomy tube placement; however, most will be successfully consuming an oral diet by 3 years of age.

Introduction

Pierre Robin sequence (PRS) was named after Dr. Pierre Robin, a French stomatologist who first described its features in 1923. PRS is an association of congenital micrognathia, glossoptosis, and airway obstruction. The association of a wide, U-shaped cleft palate was added to the sequence in 1934. PRS is not considered a syndrome in itself but rather a sequence, where multiple anomalies result from a sequential chain of malformations. Patients typically present with respiratory distress, feeding difficulties, and failure to thrive. Mortality rates of 2% to 26% have been described historically, but recent studies report a mortality rate of 10% significantly associated with syndromic PRS and the presence of neurologic anomalies.

Overall, the estimated incidence of PRS is approximately 1 in 8000 to 14,000 individuals. The highest rate of incidence is found in the United States, where it is estimated to occur in 1 in 3120 individuals. PRS affects males and females equally. There appears to be a genetic basis for this sequence due to the high incidence of twins with PRS, and studies have shown that family members of infants with PRS have a higher incidence of cleft lip and palate. Additionally, 50% to 62% of PRS cases are syndromic. The three most common syndromes include velocardiofacial, Treacher Collins, and Stickler syndromes, which account for 65% of cases.

Pathophysiology

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