Pierre Robin Sequence is glossoptosis, micrognathia and upper airway respiratory obstruction. It may with out without cleft palate.
5 Key Points
- Pierre Robin Sequence is characterised by glossoptosis, micrognathia and upper airway respiratory obstruction. It may with out without cleft palate.
- The reported incidence is approximately 1 in 8500, with no confirmed current genetic mutation identified.
- Respiratory obstruction occurs because the retracted tongue takes up a greater size proportion in the small jaw
- Initial management is centred on modifications to position and feeding
- 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 obstruction2. 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 births3.
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 syndromes4.
All babies should be screened for Stickler Syndrome.
Pathophysiology of Pierre Robin Sequence
To put it simply:
- A small jaw means the tongue occupiers a greater proportion of the oropharynx
- Tongue can fall backwards
- The result is severe respirator function.
Clinical Picture of Pierre Robin Sequence
The base of the tongue reliably follows the chin point because of the attachment of the genioglossus muscle
U-Shaped Cleft Palate
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
- Turn to the newborn prone, to relieve the glossoptosis
- 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 include8:
- Glossopexy: Tongue-lip adhesion for airway obstruction arising only from glossoptosis9.
- Subperiosteal release of the floor of mouth
- Distraction osteogenesis of the mandibleshould be considered in syndromes with poor mandibular growth potential7 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.
- 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. 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