Pierre Robin Sequence

Pierre Robin Sequence

Pierre Robin Sequence is glossoptosis, micrognathia and upper airway respiratory obstruction. This article details pathophysiology, causes and treatment.

Summary Card

Define
Micrognathia, Glossoptosis and U-shaped Palate result in upper airway obstruction and failure to thrive.

Genetics
Rare and linked to Stickler, Nagar and Treacher Collins Syndrome

Treatment
Acute management for airway and feeding. Long-term patients will often outgrow issues with airway and feeding.


Definition of Pierre Robin Sequence

Pierre Robin Sequence is a congenital group of defects resulting in upper airway obstruction and failure to thrive. This sequence is characterised by:

  1. Micrognathia: mandibular hypoplasia
  2. Glossoptosis: posterior displacement of the tongue
  3. U-shaped cleft palate: blocked closure of the palatal shelves

A small jaw results in the tongue occupying more significanter proportion of the oropharynx and falling back to cause airway obstruction.

This sequence can be visualised in the illustration below.

Pierre Robin Sequence

💡
Tip: The base of the tongue reliably follows the chin point because of the attachment of the genioglossus muscle


Genetics of Pierre Robin Sequence


Key Point

Pierre Robin Sequence has no specific identifiable genetic cause (yet). It is most commonly linked to Stickler Syndrome


The incidence of the Pierre Robin sequence is ~ 1 in 8500-20,000 live births​3. To date, no specific human gene has been associated with the Pierre Robin sequence. There is a suggestion of a link to SOX9 and KCNJ2 mutations.

Pierre Robin Sequence is associated with4​:

A patient with Treacher Collins Syndrome can be seen below.

Treacher Collins Syndrome

💡
Tip: Genetic screening for Stickler Syndrome should be considered in patients with Pierre Robin Sequence


Treatment of Pierre Robin Sequence


Key Point

Acute management focuses on airway and feeding management. Longer term, patients can often outgrow their clinical issues.


Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.

Basic Airway Management

  1. Turn to the newborn prone to relieve the glossoptosis
  2. A nasopharyngeal airway to bypass the obstruction caused by the tongue

Advanced Airway Management

Advance airway management options for Pierre Robin Sequence include​8​:

  • Glossopexy: Tongue-lip adhesion for obstruction caused by glossoptosis​9​.
  • Tracheostomy
  • Subperiosteal release of the floor of mouth
  • Distraction osteogenesis of the mandible7,​10.

Prior to any surgical intervention, a nasoendoscopy is recommended. This is performed to rule out other anatomical sites or causes of airway obstruction

The mortality associated with these symptoms is between 1.7 and 11.3%​11​.

💡
Tip: Most babies outgrow these difficulties by 6 months due to mandibular growth and improved control of the tongue.




References

  1. 1. Resnick CM. Precise osteotomies for mandibular distraction in infants with Robin sequence using virtual surgical planning. International Journal of Oral and Maxillofacial Surgery. January 2018:35-43. doi:10.1016/j.ijom.2017.07.020
  2. 2. Robin P. A fall of the base of the tongue considered as a new cause of nasopharyngeal respiratory impairment: Pierre Robin sequence, a translation. 1923. Plast Reconstr Surg. 1994;93(6):1301-1303. https://www.ncbi.nlm.nih.gov/pubmed/8171154.
  3. 3. Bush P, Williams A. Incidence of the Robin Anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36(4):434-437. doi:10.1016/0007-1226(83)90123-6
  4. 4. Marques I, Barbieri M, Bettiol H. Etiopathogenesis of isolated Robin sequence. Cleft Palate Craniofac J. 1998;35(6):517-525. doi:10.1597/1545-1569_1998_035_0517_eoirs_2.3.co_2
  5. 5. Poswillo D. The aetiology and pathogenesis of craniofacial deformity. Development. 1988;103 Suppl:207-212. https://www.ncbi.nlm.nih.gov/pubmed/3074909.
  6. 6. Sher A. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac J. 1992;29(3):224-231. doi:10.1597/1545-1569_1992_029_0224_moaoir_2.3.co_2
  7. 7. Cohen M. Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet. 1999;84(4):311-315. https://www.ncbi.nlm.nih.gov/pubmed/10340643.
  8. 8. Flores R, Tholpady S, Sati S, et al. The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. Plast Reconstr Surg. 2014;133(6):1433-1439. doi:10.1097/PRS.0000000000000225
  9. 9. Kirschner R, Low D, Randall P, et al. Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J. 2003;40(1):13-18. doi:10.1597/1545-1569_2003_040_0013_samipr_2.0.co_2
  10. 10. Tahiri Y, Viezel-Mathieu A, Aldekhayel S, Lee J, Gilardino M. The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. Plast Reconstr Surg. 2014;133(3):352e-359e. doi:10.1097/01.prs.0000438049.29258.a8
  11. 11. Smith M, Senders C. Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006;70(2):319-324. doi:10.1016/j.ijporl.2005.07.003


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