Pierre Robin Sequence

Mar 14, 2021 4 min read
Pierre Robin Sequence

Pierre Robin Sequence is glossoptosis, micrognathia and upper airway respiratory obstruction. It may with out without cleft palate.

5 Key Points

  1. Pierre Robin Sequence is characterised by glossoptosis, micrognathia and upper airway respiratory obstruction. It may with out without cleft palate.
  2. The reported incidence is approximately 1 in 8500, with no confirmed current genetic mutation identified.
  3. Respiratory obstruction occurs because the retracted tongue takes up a greater size proportion in the small jaw
  4. Initial management is centred on modifications to position and feeding
  5. Surgical options include tongue-lip adhesion and mandibular distraction osteogenesis

Definition of Pierre Robin Sequence

Pierre Robin Sequence is a triad of symptoms that include: microgenia (small jaw), glossoptosis (tongue retraction), and upper airway obstruction​2​. It is also associated with a U-shaped cleft palate.


Genetics of Pierre Robin Sequence

The incidence of Pierre Robin sequence is between 1 in 8500 and 1 in 20,000 live births​3​.

To date, there has been no specific human gene associated with Pierre Robin sequence. There is a suggestion of a link to SOX9 and KCNJ2 mutations.

Pierre Robin Sequence is associated with craniofacial syndromes. Most commonly, Stickler Syndrome. It also also been correlated with Nager and Treacher Collins syndromes​4​.

All babies should be screened for Stickler Syndrome.


Pathophysiology of Pierre Robin Sequence

To put it simply:

  1. A small jaw means the tongue occupiers a greater proportion of the oropharynx
  2. Tongue can fall backwards
  3. The result is severe respirator function.

Clinical Picture of Pierre Robin Sequence

Glossoptosis

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

Visualisation of Glossoptosis in Pierre-Robin Sequence

Microretrognathia

 Patient with Pierre Robin sequence exhibiting severe microretrognathia

U-Shaped Cleft Palate

U-Shaped Cleft Palate linked with Pierre Robin Sequence

Failure to Thrive

The combined effort of feeding and maintaining the airway is tiring. Most babies outgrow these difficulties by 6 months, due to mandibular growth and improvement neuromuscular control of the tongue.


Treatment of Pierre Robin Sequence

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. If unsuccessful, a nasopharyngeal airway can be inserted to bypass the obstruction caused by the tongue

The severity has been classified by the Birmingham Children’s Hospital Cleft Service:

  • Grade 1: Nurse side-to-side only
  • Grade 2: NG feeding and nursed side-to-side
  • Grade 3: NPA, NG feeding, nurses side-to-side

Advanced Airway Management

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

  • Glossopexy: Tongue-lip adhesion for airway obstruction arising only from glossoptosis​9​.
  • Tracheostomy
  • Subperiosteal release of the floor of mouth
  • Distraction osteogenesis of the mandibleshould be considered in syndromes with poor mandibular growth potential​7​ ​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​.

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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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