3. Pierre Robin Sequence

Pierre Robin Sequence

This PatientPlus article is written for healthcare professionals so the language may be more technical than the condition leaflets. You may find the abbreviations list helpful.

Synonyms: Pierre Robin syndrome (PRS), Pierre Robin anomaly/anomalad, Pierre Robin malformation (PRM) complex, Robin sequence, Robin complex

Related conditions - these may display features of the malformation: Stickler's syndrome, velocardiofacial syndrome, Catel-Manzke syndrome, Treacher Collins syndrome, Nager syndrome, spondyloepithelial dysplasia congenita, campomelic dysplasia.

This condition was originally considered to be a single clinical entity but is now thought to represent a particular outcome of an abnormal developmental process, associated with a range of clinical entities, and is more commonly referred to as Pierre Robin sequence (PRS). Pierre Robin, a french dental surgeon (1867-1950), is identified with the sequence/syndrome due to his role in the early part of the twentieth century, describing the typical triad of features, and his many articles on its management. PRS' typical features are:

  • Micrognathia or retrognathia (small or retracted mandible)
  • Cleft palate (classically U-shaped, but V-shaped may occur, usually without cleft lip)
  • Glossoptosis (implying a relatively large tongue. In reality, the tongue may be normal size or small, so upper airway obstruction may be substituted for this feature)

The aetiology of the sequence is not fully understood and pathogenesis is thought to be multifactorial.[1] Subtypes are recognised:[2]

  • Isolated PRS (iPRS) - 40%
  • Syndromic PRS (a syndrome plus PRS) - 25%
  • Unique PRS (unique anomalies plus PRS) - 35%

Some cases may be due to physical intrauterine compromise but it has been linked with deletions on chromosome 2 that are known to be associated with palatal abnormalities, and some cases may have a Mendelian genetic basis that is, as yet, unclear.[3] Candidate genes and loci are under investigation.[4]

Incidence

Pierre Robin sequence (PRS) is a rare condition. A Danish retrospective study found an incidence of 1 in 14,000 live births.[5]

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  • With the increasing routine use of antenatal ultrasound, diagnosis is frequently before birth - based on identification of micrognathism or retrognathism and glossoptosis.[6][7][8]
  • The craniofacial abnormalities are usually plainly evident at birth, if not diagnosed previously.
  • Neonates with severe micrognathia present as emergencies at birth with significant respiratory obstruction, requiring a nasopharyngeal airway or intubation.
  • Affected babies are at risk of obstructive sleep apnoea. Unrecognised or untreated airways obstruction may lead to chronic hypoxia and cerebral impairment, failure to thrive and cor pulmonale.
  • The most common early problem is feeding difficulties, as the cleft palate prevents enough negative pressure to feed effectively.
  • Careful examination for other somatic abnormalities, including examination of the eyes and ears, may indicate the presence of the malformation as one of the related syndromes.
  • Fetal alcohol syndrome
  • Stickler syndrome: Pierre Robin sequence (PRS) plus severe myopia, retinal detachment and blindness with abnormal epiphyseal development due to alpha-1 collagen II polypeptide mutation[9]
  • Velocardiofacial syndrome: 22q deletion with neuropsychiatric impairments and cardiac abnormalities[10]
  • Other rare syndromes that display the malformation
  • Pulse oximetry, arterial or capillary blood gases
  • Bone radiographs
  • Genetic assessment
  • Ophthalmological/auditory assessment

Neonatal

  • Babies presenting at birth with significant respiratory obstruction require urgent attention from someone experienced with difficult paediatric airways.
  • Feeding can be problematic due to the cleft palate and posterior tongue. Where nursing is not possible, formula or breast milk can be provided via a bottle with a nipple cut to a large hole to make delivery effortless. Positioning (in the prone position) is also vital.
  • The multidisciplinary team involved is often large (incorporating paediatricians, ENT and plastic surgeons, dentists, orthodontists, nurses, speech therapists, audiologists, and social workers) but ensures the most comprehensive care plan.

Airways

Micrognathia may improve in 'non-syndromal' Pierre Robin sequence (PRS) as catch-up growth occurs, and no intervention beyond positioning is required. However, approximately half of children with PRS require additional airways intervention:[11]

  • Nonsurgical airways:
    • Nasopharyngeal airways[12]
    • Short-term endotracheal intubation
  • Surgical approaches:
    • Tracheostomy
    • Distraction osteogenesis of the mandible (where the mandible is progressively elongated)[13]
    • Tongue-lip adhesion/glossopexy (connecting the tongue to the lower lip to improve the airway - later reversed)[14]

Feeding

  • If feeding is problematic, a feeding tube may be required.
  • Palatal repair usually carried out at 6-18 months.[15]

A degree of palatal dysfunction and speech defect is to be expected in the long-term. However, overall, the outlook is good but dependent on the presence or absence of other syndromes and their complications. By 3 years old, most children with Pierre Robin sequence (PRS) are taking an oral diet and do not have significant airways obstruction.[2]

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Further reading & references

  1. Evans AK, Rahbar R, Rogers GF, et al; Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 2006 Jun;70(6):973-80. Epub 2006 Jan 26.
  2. 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. Epub 2005 Aug 19.
  3. Pierre Robin Syndrome, Online Mendelian Inheritance in Man (OMIM)
  4. 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.
  5. Printzlau A, Andersen M; Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004 Jan;41(1):47-52.
  6. Bronshtein M, Blazer S, Zalel Y, et al; Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy. Am J Obstet Gynecol. 2005 Oct;193(4):1561-4.
  7. Teoh M, Meagher S; First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome. Ultrasound Obstet Gynecol. 2003 Jun;21(6):616-8.
  8. Chiriac A, Dawson A, Krapp M, et al; Pierre-Robin syndrome: a case report. Arch Gynecol Obstet. 2007 Jul 6;.
  9. Rose PS, Levy HP, Liberfarb RM, et al; Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005 Oct 15;138(3):199-207.
  10. Kobrynski LJ, Sullivan KE; Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007 Oct 20;370(9596):1443-52.
  11. Meyer AC, Lidsky ME, Sampson DE, et al; Airway interventions in children with Pierre Robin Sequence. Otolaryngol Head Neck Surg. 2008 Jun;138(6):782-7.
  12. Anderson KD, Cole A, Chuo CB, et al; Home management of upper airway obstruction in Pierre Robin sequence using a Cleft Palate Craniofac J. 2007 May;44(3):269-73.
  13. Tibesar RJ, Price DL, Moore EJ; Mandibular distraction osteogenesis to relieve Pierre Robin airway obstruction. Am J Otolaryngol. 2006 Nov-Dec;27(6):436-9.
  14. Kirschner RE, Low DW, Randall P, et al; Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J. 2003 Jan;40(1):13-8.
  15. Tewfik T Pierre Robin Syndrome, eMedicine March 2010.
Original Author: Dr Chloe Borton Current Version:
Last Checked: 20/04/2010 Document ID: 2610  Version: 21 © EMIS

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

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