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Internal Medicine

Pierre-Robin sequence (PRS)

Congenital sequence (i.e. a chain of certain developmental malformations, one entailing the next) of facial anomalies.

Congenital sequence (i.e. a chain of certain developmental malformations, one entailing the next) of facial anomalies.

  • Typically presents as a NEONATAL EMERGENCY
    • Due to airway obstruction from abnormally positioned tongue

History:

The triad of cleft palate, micrognathia, and airway obstruction was described by St Hilaire in 1822, by Fairbain in 1846, and by Shukowsky in 1911. Pierre Robin, a French stomatologist, first described glossoptosis and its relationship with micrognathia and airway complications that can occur in the condition that now bears his name. In 1923, Robin described “liberation of the oral pharynx” with a prosthetic device that pulled the jaw and tongue forward. He later reported growth failure and death caused by the respiratory complications that occur with micrognathia and glossoptosis.

prs
Evans, K. N., Sie, K. C., Hopper, R. A., Glass, R. P., Hing, A. V, & Cunningham, M. L. (2011). Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics, 127(5), 936 LP – 948. Retrieved from http://pediatrics.aappublications.org/content/127/5/936.abstract

Classification

  • Fairbairn–Robin triad (FRT): Micrognathia + glossoptosis + palatal cleft
  • Siebold–Robin sequence (SRS): Micrognathia + glossoptosis

Aetiology

Syndromic PRS (sPRS):

  • Strickler syndrome (30-50%, M/C)
  • Treacher Collins syndrome
  • Velocardiofacial syndrome & DiGeorge syndrome
  • CHARGE syndrome
  • Edward’s syndrome
  • Trisomy 11q syndrome
  • Möbius syndrome
  • Fetal alcohol syndrome

Non-syndromic PRS (nsPRS):

  • SOX9 gene

Clinical features

Triad:

  1. Cleft palate (U-shaped)
  2. Retrognathia: Abnormal positioning of the jaw/mandible
  3. Glossoptosis (backwards displacement of the tongue base) → Airway obstruction
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A, U-shaped cleft palate. B, Endoscopy captured this intraoral view of glossoptosis; the tongue is actually pulled back into the cleft palate so that only the undersurface of the tongue is visible. (Image courtesy of Dr Jonathan Perkins, Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck Surgery.) C, Computed-tomography scan sagittal view of posterior tongue occluding the pharyngeal airway in an infant with RS. | Evans, K. N., Sie, K. C., Hopper, R. A., Glass, R. P., Hing, A. V, & Cunningham, M. L. (2011). Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics, 127(5), 936 LP – 948. Retrieved from http://pediatrics.aappublications.org/content/127/5/936.abstract

Management

Multidisciplinary management:

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Protocol outlining clinical evaluation and medical and surgical management of RS related to airway obstruction: a) Airway stability is defined as normal oxygen saturations, normal carbon dioxide level, and absence of work of breathing or signs of airway obstruction. b) Centers may vary regarding which interventions are available. | NG indicates nasogastric; VFSS, video fluoroscopic swallow study; GER, gastroesophageal reflux; G, gastrostomy; CT, computed tomography. | Evans, K. N., Sie, K. C., Hopper, R. A., Glass, R. P., Hing, A. V, & Cunningham, M. L. (2011). Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics, 127(5), 936 LP – 948. Retrieved from http://pediatrics.aappublications.org/content/127/5/936.abstract

Prone positioning (50% success rate):

Allow the mandible and tongue to fall forward and reduce airway obstruction at the tongue-base level.

Nasopharyngeal airway (NPA):

Obstruction may be relieved as the NPA breaks the seal between the tongue and posterior pharynx, and the child can breathe through the tube and contralateral nostril.
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An NPA in an infant with RS. | Evans, K. N., Sie, K. C., Hopper, R. A., Glass, R. P., Hing, A. V, & Cunningham, M. L. (2011). Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics, 127(5), 936 LP – 948. Retrieved from http://pediatrics.aappublications.org/content/127/5/936.abstract

Tongue-Lip Adhesion (TLA): Glossopexy

Anterior ventral tongue anchored to lower lip (mucosa plus or minus muscle), and posterior tongue is anchored to mandible.

Mandibular distraction osteogenesis (MDO):

Procedure includes bilateral osteotomies and placement of distraction devices, which can be internal or external with percutaneous pins.

Tracheotomy: Last resort

Reserved for patients whose condition fails to respond to other measures, although it is still used as the main surgical option for children with RS and airway obstruction at some institutions.

Summary

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