Pierre Robin Sequence Treatment & Management
- Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Ravindhra G Elluru, MD, PhD more...
The newborn affected with Pierre Robin sequence (PRS) is of serious concern to neonatologists, pediatricians, and other health care providers.
PRS has three essential components: micrognathia/retrognathia, cleft palate, and relative glossoptosis. Immediately after delivery, because of the micrognathia and, therefore, relative glossoptosis, many children have airway distress. This may necessitate emergency treatment. Because the body will always prioritize breathing over eating, many infants have difficulty in achieving adequate caloric intake. A cleft palate further adds to the feeding difficulties.
The primary concern in airway compromise is its life-threatening aspect. Most neonates with PRS have an isolated defect that is not part of a syndrome, for which the airway and feeding complications are usually greater. The great majority of neonates can be treated in the prone position (face down). Devices or procedures such as oral airways, palatal prostheses, continuous positive airway pressure or endotracheal intubation, mechanical ventilation, and tracheostomy can be avoided.
These neonates also need to be fed in a prone position, but they can be fed by mouth. Again, very few infants need long-term gavage feeding tubes or other devices. Multidisciplinary care that includes a neonatologist, a neonatal nurse specialist, members of the craniofacial team, and the parents is the best approach in the complex care of neonates affected with PRS and Robin complexes.
The vast majority of neonates with nonsyndromic PRS, those who are breathing without assistance and orally feeding while prone, can be discharged home after a few days. It is expected that the mandible will eventually grow and, thus, that the severe airway obstruction and feeding issues will decrease. Feeding and speech assessments continue to be needed, and breathing capacity must be monitored. Eventually, the cleft palate must be closed, and long-term orthodontic care is required; however, some neonates have much more severe immediate or long-term medical problems.
Secondary to the micrognathia/retrognathia, airway obstruction may be mild or severe. Severe obstruction may require immediate intervention with a very difficult intubation. In many infants, airway difficulties may seem mild at birth but progress during the first 4-8 weeks. This may be because a newborn's respiratory needs are relatively small. As an infant grows, the requirements increase, making the obstruction more severe.
Mild obstruction can normally be handled in a very conservative manner with positional changes. Obstruction of the airway results from a small mandible and a normal-sized tongue. Putting a baby in the prone position causes gravity to pull the tongue forward and results in a larger airway passage. Infants with a nonsyndromic etiology will often outgrow this type of obstruction.
If the obstruction does not resolve through positional changes, many practitioners advocate use of the nasopharyngeal airway. The nasopharyngeal airway bypasses the oral pharynx and the obstruction caused by the relative glossoptosis. In the neonatal intensive care unit (ICU), this can be a very effective temporary form of management of the airway obstruction. Most centers do not feel comfortable sending patients home with a nasopharyngeal airway, because dislodgement can result in an acute airway obstruction.
In patients who consistently maintain CO2 levels above 50, a surgical procedure is appropriate. The following three surgical procedures are used to treat Robin sequence :
Distraction osteogenesis of the mandible
Tongue-lip adhesion/glossopexy is a controversial method of alleviating airway obstruction. In this technique, the tongue is sutured to the lower lip, thereby pulling the tongue forward and providing a larger airway. Later, presumably after the child has demonstrated catchup growth, this bond between the tongue and lip is separated. This results in a very mild cosmetic deformity to the lip and tongue.
With a glossopexy, many surgeons try to pull the base of the tongue forward by attaching it to the mandible. Because the mandible is relatively soft, placing a suture that permanently holds the base of the tongue forward is very difficult; consequently, the tongue-lip adhesion/glossopexy has been a relatively controversial technique. Nevertheless, it does have its isolated advocates among maxillofacial surgeons.
A tracheotomy tube effectively bypasses the obstruction in the oral pharynx and hypopharynx. When and if the infant's airway obstruction is resolved, the tracheotomy tube can be removed.
Unfortunately, tracheotomy tubes require close monitoring. If the tracheotomy tube becomes occluded or dislodged, the patient could have an acute respiratory arrest. However, a tracheotomy tube rarely remains in place less than a year after being placed in a newborn. Despite the hardship for the family of taking care of a tracheotomy tube, methods of teaching families how to care for it are well established. Tracheotomy remains a criterion standard for children with severe airway obstruction.
Distraction osteogenesis is a relatively new technique for treating airway obstruction in PRS. Distraction osteogenesis has been popularized by Sidman, who has the world's widest experience in treating patients with PRS with distraction osteogenesis.
Many centers have developed expertise in this area. In this technique, the mandible is cut near the angle of the mandible on both sides. A mechanical device distracts the two portions of the mandible approximately 1.5-2 mm a day. As the portions of the mandible are separated, new bone is formed, and the mandible gradually elongates over a period of 2-3 weeks. Distraction can be performed in the newborn to prevent a tracheotomy or can be performed later to remove a tracheotomy tube.
Because this technique has been popularized only during the past decade or so, the long-term sequelae on mandibular growth and tooth development is not known at this time; nevertheless, it remains a very promising technique that has been gaining in popularity (see the images below).
Even if the results of distraction osteogenesis are promising, it must be kept in mind that in nonsyndromic PRS, the mandible grows very fast after birth and that catchup growth improves the airway passage. Mandibular distraction should be reserved only for very severe isolated PRS cases and for syndromic PRS cases in which mandibular catchup growth does not occur.
Many children with PRS have feeding difficulties. Because the body chooses breathing over eating, it is expected that a patient with airway difficulties will have feeding difficulties.
If the infant demonstrates catchup growth, feeding may be handled through special techniques, which consist of keeping the child's head more elevated and using special cleft nursing bottles (for more details, see Cleft Lip and Palate). If this is not satisfactory, gavage or feeding tubes can temporarily provide adequate nutrition. If feeding does not improve over a period of months, many infants require gastrostomy tubes. After the child develops the ability to feed orally, these tubes can be removed.
In the United States, cleft palates are typically repaired in infants aged 10-18 months; however, if airway concerns are expressed, the palate surgery is often delayed until the child is aged approximately 18 months. The current belief is that as a general rule, the earlier the surgery is performed, the better the chance that the child will have completely normal palatal function and, consequently, normal speech. If a child has a tracheotomy tube in place, the palate repair can be performed at any time.
Micrognathia may be managed during the perinatal period if airway obstruction is significant and the family opts for distraction osteogenesis of the mandible. Otherwise, most centers wait until the infant achieves full growth of the facial bones before dealing with the functional and aesthetic abnormalities caused by micrognathia. In infants with retrognathia, surgery for the defective dental occlusion is rarely indicated. However, infants with either micrognathia or retrognathia may benefit from some sort of chin enhancement procedure for esthetic reasons.
An extensive description of treatment choices can be found in the review by St-Hilaire and Buchbinder.
Because different types of obstruction, positioning, and traction devices are not always successful, they may not be recommended in most patients with syndromic PRS and Robin complexes. Thus, nasopharyngeal airway, tongue-lip adhesion, and other glossopexy procedures, as well as tracheostomy, are more common in syndromic patients with PRS than in those with isolated deformational PRS.
A multidisciplinary approach is always necessary in choosing the best treatment protocol for each patient. In patients with syndromic as well as nonsyndromic PRS, postponement of palatal closure may be beneficial for the final treatment outcome. One must carefully consider the individual timing and choice of procedures on the basis of a precise diagnosis and the particulars of the individual case, particularly because variability is great both between syndromes and within each clinical condition.
The major problem is airway compromise or obstruction.[40, 41] As mentioned previously (see Pathophysiology), different causes of airway obstruction are noted in PRS and Robin complexes. Therefore, one must accurately diagnose a baby with PRS as soon as possible in order to successfully manage this serious condition.
The vast majority of infants with nonsyndromic PRS and normal tongue size experience airway obstruction due to micrognathia of different degrees. If the baby is in the prone position (face down), gravity pulls the tongue forward and keeps the airway open. In severe cases, this may not be sufficient, and tongue-lip adhesion or glossopexy may be necessary.
Placement of a nasopharyngeal airway can help to avoid airway blockage. Consider it especially when hypotonia is also present (eg, deletion of chromosome band 22q11.2 syndrome), as well as in Robin complexes with neurologic symptoms. Some patients still require a tracheostomy to maintain an open airway.
In extensive studies dealing with airway problems in PRS, Shprintzen demonstrated that different mechanisms of obstruction can occur within the same syndrome and noted that in some patients, glossoptosis is frequently not the cause of the upper airway obstruction.[27, 4]
Infants with PRS also have difficulties with feeding. A cleft palate prevents production of the negative pressure necessary for sucking during breastfeeding. In addition, because of an abnormal jaw position, a baby with a small mandible usually has difficulties contracting its orbicularis oris muscle and squeezing the mother's nipple. In cleft palate, a wide communication between the oral and nasal cavities creates a risk of choking and other feeding problems.
In deformational PRS, the mandible undergoes catchup growth (see the images below) that starts after birth when intrauterine constraint disappears and thus eases airway and feeding problems.
Usually, improvement is observed after the first 3 months. Even with partial catchup growth, a child's profile is almost normal at age 4-6 years without any treatment. When, as in some patients, the mandible still lags behind, orthodontic treatment of malocclusion may be required (see Surgical Care).
In PRS that is part of a syndrome or in Robin complexes, initial problems during the neonatal period and early stages of life are similar to those in deformational PRS.
Numerous syndromes occur with PRS.[24, 18] Because postnatal development is different for each of them, a precise diagnosis based on a genetic workup is essential.
A careful analysis of the type of airway obstruction is fundamental. Sher et al studied the mechanism of airway obstruction using flexible fiberoptic nasolaryngoscopy and developed a classification scheme based on four different processes. Identifying a type of airway obstruction and understanding its mechanism is essential for correct management and treatment.
One thing is common for nondeformational PRS: No catchup growth of the mandible occurs. Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age if not treated.
Although treatment in the beginning of an infant's life is similar for all patients with Robin sequences, management of airway obstruction may require a more invasive approach in syndromic PRS and in Robin complexes.
Smith and Senders reviewed 60 patients with PRS. One third of patients who failed positional therapy were temporarily stabilized with a nasopharyngeal airway or endotracheal intubation. The remaining two thirds of patients required a surgical procedure. By age 3 years, most patients were successfully taking an oral diet.
An extensive description of treatment choices for PRS can be found in the review by St-Hilaire and Buchbinder. Because of the different types of obstruction, positioning and traction devices are not always successful and may not be sufficient for airway management in patients with syndromic PRS and Robin complexes. Thus, nasopharyngeal airway, tongue-lip adhesion, and other glossopexy procedures, as well as tracheostomy, are more common than in patients with deformational PRS.
Most infants with nonsyndromic PRS and normal tongue size experience airway obstruction due to micrognathia of different degrees. If the baby is in the prone position, gravity pulls the tongue forward and keeps the airway open. Placement of a nasopharyngeal airway can help avoid airway blockage. Consider it especially when hypotonia is also present (eg, deletion of chromosome band 22q11.2 syndrome) as well as in Robin complexes with neurologic symptoms. Some cases require a tracheostomy to maintain an open airway in the baby.
One should pay special attention to the timing of cleft palate surgery. Usually, the palatal cleft is shaped like a wide U, with a wide and shallow palate. At the time when surgery is recommended for most children with cleft palate (9-18 months), the lower jaw is still small, and the child may not be gaining weight and thriving properly because of feeding and airway problems.
Furthermore, because of the micrognathic jaw and the normal tongue size, an infant may be using his or her cleft palate as an airway. Closing of the cleft may significantly compromise airway function; therefore, a multidisciplinary team of specialists should carefully evaluate the timing of cleft palate closure. Lehman reported a detailed retrospective analysis of cleft palate repair in 34 patients with Robin sequence. Approximately 24% of patients suffered from complications related to airway management at the time of palatoplasty.
Mandibular distractional osteogenesis offers a definitive structural resolution of micrognathia. After the first cases of mandibular distractional osteogenesis were published, numerous patients underwent this procedure; various modifications of the original technique are now used.
Cohen et al reported performing mandibular distractional osteogenesis in patients aged 14 weeks to 12 years with obstructive sleep apnea caused by craniofacial anomalies. In all patients, significant relief from airway obstruction was observed.
Lam et al, in a retrospective study of 123 patients with severe micrognathia, found that mandibular distractional osteogenesis was highly successful in allowing patients to avoid tracheotomy.
Flores et al, in an outcomes analysis of mandibular distractional osteogenesis versus tongue-lip adhesion in the treatment of nonsyndromic PRS, concluded that the former procedure yielded better outcomes with respect to oxygen saturation, apnea-hypopnea index, and incidence of tracheostomy.
Velopharyngeal dysfunction after palatoplasty is rather common. It is more common in patients with nonsyndromic PRS, when the cleft is usually U-shaped, large, and wide, than it is in patients with syndromic PRS.
Consultation with a feeding specialist is advised. In many cases, when carefully instructed, a mother is able to manage bottle feeding while her baby is in a semisitting position. In patients with severe problems, gavage feeding may be necessary in the beginning of the baby's life.
Pruzansky S. Not all dwarfed mandibles are alike. Birth Defects. 1969. 5(2):120-9.
Cole A, Lynch P, Slator R. A new grading of Pierre Robin sequence. Cleft Palate Craniofac J. 2008 Nov. 45(6):603-6. [Medline].
Olasoji HO, Ambe PJ, Adesina OA. Pierre Robin syndrome: an update. Niger Postgrad Med J. 2007 Jun. 14(2):140-5. [Medline].
Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992. 29:205-209. [Medline].
Robin P. La chute de la base de la langue consideree comme une nouvelle cause de gene dans la respiration naso-pharyngienne. Bull Acad Med Paris. 1923. 89:37-41.
Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. 1934. 48:541-547.
Beighton P, Beighton G. The Man Behind Syndrome. Springer-Verlag, Berlin: 1986.
Marques IL, Barbieri MA, Bettiol H. Etiopathogenesis of isolated Robin sequence. Cleft Palate Craniofac J. 1998 Nov. 35(6):517-25. [Medline].
Holder-Espinasse M, Abadie V, Cormier-Daire V, et al. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr. 2001 Oct. 139(4):588-90. [Medline].
Jakobsen LP, Knudsen MA, Lespinasse J, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006 Mar. 43(2):155-9. [Medline].
Melkoniemi M, Koillinen H, Mannikko M, et al. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar. 11(3):265-70. [Medline].
Jakobsen LP, Ullmann R, Christensen SB, et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007 Jun. 44(6):381-6. [Medline].
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009 Mar. 41(3):359-64. [Medline].
Hanson JW, Smith DW. U-shaped palatal defect in the Robin anomalad: developmental and clinical relevance. J Pediatr. 1975 Jul. 87(1):30-33. [Medline].
Williams AJ, Williams MA, Walker CA, Bush PG. The Robin anomalad (Pierre Robin syndrome) - a follow-up study. Arch Dis Child. 1981. 45:663-668. [Medline].
Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: A clinical and genetic analysis. Pediatrics. 1981. 67:167-172. [Medline].
Cohen MM Jr. The Child with Multiple Birth Defects,. 2nd ed. New York, NY: Oxford University; 1997.
Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck,. 4th ed. New York, NY: Oxford University; 2001.
Sheffield LJ, Reiss JA, Strohm K, Gilding M. A genetic follow-up study of 64 patients with the Pierre Robin complex. Amer J Med Genet. 1987. 28:25-36. [Medline].
Sher AE. Mechanisms of airway obstruction in Robin sequence: Implications for treatment. Cleft Palate Craniofac J. 1992. 29:224-231. [Medline].
Cohen MM Jr. Dysmorphology, syndromology, and genetics in plastic surgery. McCarthy JG, ed. Plastic Surgery. WB Saunders: Philadelphia, PA; 1990. 69-112.
Harding CO, Green CG, Perloff WH, Pauli RM. Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatr Pulmonol. 1990. 9:49-54. [Medline].
Kreiborg S, Cohen MM Jr. Syndrome delineation and growth in orofacial clefting and craniosynostosis. Turvey TA, Vig KWL, Fonseca RJ, eds. Facial Clefts and Craniosynostosis. Principles and Management. Philadelphia, PA: WB Saunders; 1996. 57-75.
Cohen MM Jr. Editorial comment. Robin sequences and complexes. Causal heterogeneity and pathogenetic/phenotypic variability. Amer J Med Genet. 1999. 84:311-315. [Medline]. [Full Text].
Poswillo D. The aetiology and surgery of cleft palate with micrognathia. Ann R Coll Surg Engl. 1968. 43(2):61-88. [Medline].
Bush PG, Williams AJ. Incidence of the Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983. 36:434-437. [Medline].
Shprintzen RJ. Pierre Robin, micrognathia, and airway obstruction: The dependency of treatment on accurate diagnosis. Int Anesthesiol Clin. 1988. 26:64-71. [Medline].
Tolarova MM, Cervenka J. Classification and birth prevalence of orofacial clefts. Amer J Med Genet. 1998. 75:126-137. [Medline]. [Full Text].
Smith JW, Stowe WR. The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with emphasis on associated ocular lesions. Pediatrics. 1961. 27:128-33.
Bixler D, Christian JC. Pierre Robin syndrome occurring in two unrelated sibships. Birth Defects Orig Art Ser. 1971. VII(7):67-71.
Shah CV, Pruzansky S, Harris WS. Cardiac malformations with facial clefts; with observations on the Pierre Robin syndrome. Am J Dis Child. 1970 Mar. 119(3):238-44. [Medline].
Radhakrishnan J, Sharma A. Feeding plate for a neonate with Pierre Robin sequence. J Indian Soc Pedod Prev Dent. 2011 Jul-Sep. 29(3):239-43. [Medline].
Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: WB Saunders; 2005.
Cohen MM Jr. Etiology and pathogenesis of orofacial clefting. Oral and Maxillofacial Surgery Clinics of North America. 2000. 12(3):379-97.
Lee JH, Kim YH. Temporary tongue-lip traction during the initial period of mandibular distraction in Pierre Robin sequence. Cleft Palate Craniofac J. 2009 Jan. 46(1):19-23. [Medline].
Hong P. A clinical narrative review of mandibular distraction osteogenesis in neonates with Pierre Robin sequence. Int J Pediatr Otorhinolaryngol. 2011 Aug. 75(8):985-91. [Medline].
Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001. 111:1137-1146. [Medline].
Dauria D, Marsh JL. Mandibular distraction osteogenesis for Pierre Robin sequence: what percentage of neonates need it?. J Craniofac Surg. 2008 Sep. 19(5):1237-43. [Medline].
St-Hilaire H, Buchbinder D. Maxillofacial pathology and management of Pierre Robin sequence. Otolaryngol Clin of North Am. 2000 Dec. 33(6):1241-1256. [Medline].
Han KD, Seruya M, Oh AK, Zalzal GH, Preciado DA. "Natural" decannulation in patients with Robin sequence and severe airway obstruction. Ann Otol Rhinol Laryngol. 2012 Jan. 121(1):44-50. [Medline].
Glynn F, Fitzgerald D, Earley MJ, Rowley H. Pierre Robin sequence: an institutional experience in the multidisciplinary management of airway, feeding and serous otitis media challenges. Int J Pediatr Otorhinolaryngol. 2011 Sep. 75(9):1152-5. [Medline].
Smith MC, Senders CW. Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006 Feb. 70(2):319-24. [Medline].
Lehman JA, Fishman JRA, Neiman GS. Treatment of cleft palate associated with Robin sequence: Appraisal of risk factors. Cleft Palate Craniofac J. 1995. 32:25-29. [Medline].
McCarthy JG, Schreiber J, Karp N, et al. Lengthening of the human mandible by gradual distraction. Plast Reconstr Surg. 1992. 89:1-8. [Medline].
Cohen SR, Simms C, Burstein FD. Mandibular distraction osteogenesis in the treatment of upper airway obstruction in children with craniofacial anomalies. Plast Reconstr Surg. 1998. 101:312-318. [Medline].
Lam DJ, Tabangin ME, Shikary TA, Uribe-Rivera A, Meinzen-Derr JK, de Alarcon A, et al. Outcomes of mandibular distraction osteogenesis in the treatment of severe micrognathia. JAMA Otolaryngol Head Neck Surg. 2014 Apr. 140(4):338-45. [Medline].
Flores RL, Tholpady SS, Sati S, Fairbanks G, Socas J, Choi M, et al. The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. Plast Reconstr Surg. 2014 Jun. 133(6):1433-9. [Medline].
Witt PD, Myckatyn T, Marsh JL, et al. Need for velopharyngeal management following palatoplasty: An outcome analysis of syndromic and nonsyndromic patients with Robin sequence. Plast Reconstr Surg. 1997. 99:1522-1529. [Medline].