Pierre Robin Sequence is glossoptosis, micrognathia and upper airway respiratory obstruction. This article details pathophysiology, causes and treatment.
Micrognathia, Glossoptosis and U-shaped Palate result in upper airway obstruction and failure to thrive.
Rare and linked to Stickler, Nagar and Treacher Collins Syndrome
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:
- Micrognathia: mandibular hypoplasia
- Glossoptosis: posterior displacement of the tongue
- 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.
Genetics of Pierre Robin Sequence
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 births3. 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:
- 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
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
- Turn to the newborn prone to relieve the glossoptosis
- A nasopharyngeal airway to bypass the obstruction caused by the tongue
Advanced Airway Management
Advance airway management options for Pierre Robin Sequence include8:
- Glossopexy: Tongue-lip adhesion for obstruction caused by glossoptosis9.
- 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.
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- 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. 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. 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. Poswillo D. The aetiology and pathogenesis of craniofacial deformity. Development. 1988;103 Suppl:207-212. https://www.ncbi.nlm.nih.gov/pubmed/3074909.
- 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. 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. 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. 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. 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. 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