Pierre Robin Sequence

Introduction

  • Occurs 1 in 8,500-14,000 people.
  • Affects males and females equally
  •  Genetic mutation for isolated Pierre Robin sequence:
    • Enhancing region of SOX9 gene (chondrogenic regulator)
  • Features include:
  1. Mandibular hypoplasia (micrognathia)
  • Occurs before week 9 in-utero
  1. Glossoptosis (posterior displacement of tongue)
  2. U-shaped cleft palate 

​Consequences of Pierre Robin Sequence

  • Airway obstruction
    • ​Can occur spontaneously, during feeding, while awake, or asleep.
    • Snoring only reported in 50% of cases.
    • Increased energy expenditure due to breathing efforts can lead to failure to thrive.
  • ​Feeding difficulties
    • ​Poor caloric intake can lead to failure to thrive if not caught early.
    • Use prone positioning during feeding
  • ​Mortality
    • Most commonly due to airway obstruction
    • ​1-11% in term infants
    • Up to 26% in children with other comorbities.

 

Workup

  • Diagnosis based on clinical findings
  • Test for isolated SOX9 mutation and associated syndromes

 

Treatment

  • Nonsurgical
    • Prone positioning (allow mandible and tongue to fall forward)
    • Nasopharyngeal airway (NPA)
    • Continuous positive airway pressure (CPAP)
    • Orthodontic devices (palatal plates)
  • Surgical
    • Mandibular distraction osteogenesis (MDO)
      • Micrognathia correction by lengthening the mandible over time resulting in airway improvement
    • Tongue lip adhesion (TLA)
      • Tongue sutured to lip to prevent posterior positioning
    • Tracheostomy

 

Associated Conditions

​Stickler Syndrome (Hereditary Arthroopthlamopathy)

  • Mutations in COL genes
    • COL11A1 (alpha-1 chain of XI collagen)
    • COL2A1 (alpha-1 chain of type II collagen)
  • Leading cause of retinal detachment in children
  • Flat midface, anteverted nares, micrognathia, deafness, joint arthritis & hypermobility

​Velocardiofacial syndrome

  • Deletion in 22q11 gene locus
  • Associated with DiGeorge syndrome
    • Hypernasal speech
    • Long face, prominent nose, cleft palate
    • Hypotonia
  • Heart defects
    • ​Truncus arteriosus
    • Ventricular septal defect
    • Right sided aortic arch
    • Tetralogy of fallot
  • Chronic otitis media
  • Hypocalcemia
  • Eye defects
    • Bilateral cataracts
    • Tortuous retinal vessels
    • Small optic disks
  • Developmental delay, learning difficulties

Treacher Collins syndrome (mandibulofacial dystosis) 

  • Autosomal dominant mutation
    • TCOF1, PLOR1C, PLOR1D
  • Neural crest cell migration dysfunction causing abnormal 1st and 2nd branchial arch development
  • Malar hypoplasia
  • Colobomas
  • Retrusive chin and jaw
  • External ear abnormalities leading to conductive hearing loss
  • Nomal development and intelligence

 

References

  1. ​Denny ADMD, Talisman RMD, Hanson PRDDS, Recinos RFMD. Mandibular Distraction Osteogenesis in Very Young Patients to Correct Airway Obstruction. Plast Reconstr Surg. 2001 Aug;108(2):302–11.
  2. Isolated Pierre Robin sequence [Internet]. Genetics Home Reference. 2015 [cited 2015 Oct 16]. Available from: http://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence
  3. Learning About Velocardiofacial Syndrome [Internet]. [cited 2015 Oct 16]. Available from: https://www.genome.gov/25521139
  4. Côté A, Fanous A, Almajed A, Lacroix Y. Pierre Robin sequence: Review of diagnostic and treatment challenges. Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):451–64.
  5. Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML. Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics. 2011 May 1;127(5):936–48.
  6. Pierre Robin Sequence: Background, Pathophysiology, Epidemiology. 2015 Sep 16 [cited 2015 Nov 8]; Available from: http://emedicine.medscape.com/article/995706-overview
  7. Shprintzen RJ. Velo-Cardio-Facial Syndrome: 30 Years of Study. Dev Disabil Res Rev. 2008;14(1):3–10. 

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