Pierre Robin Sequence

Definition of Pierre Robin Sequence

Pierre Robin Sequence is a congenital group of defects resulting in upper airway obstruction and failure to thrive. It can be syndromic or occur in isolation.

It is called a "sequence" because a single developmental defect results in a chain of secondary defects. More specifically:

• Defect 1: Micrognathia due to mandibular hypoplasia
• Defect 2: Glossoptosis due to posterior displacement of the tongue
• Defect 3: U-shaped cleft palate due to 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.

Genetics of Pierre Robin Sequence

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 with^4​:

• Stickler Syndrome the - risk of retinal detachment.
• Nager Syndrome
• Treacher Collins Syndrome

A patient with Treacher Collins Syndrome can be seen below.

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. Generally speaking, syndromic PRS patients are much more challenging to treat than those that occur in isolation.  

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 mandible^7,​10 is an alternative to tracheostomy.  

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​.

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