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  • Pierre Robin syndrome
  • Pierre Robin Malformation Sequence
  • Pierre Robin complex
  • Pierre Robin anomaly
  • Pierre Robin triad
  • Robin Anomalad
  • Cleft Palate, Micrognathia and Glossoptosis

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  • 756.0 Anomalies of skull and face bones1

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  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

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Description

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  • Group of congenital malformations usually a triad combination
    • Cleft palate (92%)3
    • Micrognathia
      • Small lower jaw
    • Glossoptosis (70 to 85%)3 at birth
      • Tongue tends to fall back toward the throat

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Essentials of Diagnosis

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  • May have failure to thrive or severe respiratory distress3

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General Considerations

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  • Presents as emergencies in the newborn period because of airway restriction
  • May have clubfeet or hearing loss (60%)3
  • CNS defects (50%)3
    • Developmental delay
    • Hypotonia
    • Hydrocephalus
  • Infants with Pierre Robin may have Strickler Syndrome and Velocardiofascial Syndrome
  • Congenital heart disease in 15%4

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Demographics

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  • Affects males and females equally unless X-linked3
  • 1 in 8,500 births6

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Signs and Symptoms

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  • Ear infections
  • Breathing problems
  • Cleft soft palate
  • High arched palate
  • Small, retracted lower jaw
  • Natal teeth
  • Large tongue5

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Functional Implications

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  • Frequent ear infections6
  • Difficulty feeding
  • Decreased hearing
  • Delayed speech

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Possible Contributing Causes

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  • Unknown
  • May be a result of positioning of the fetus in the beginning of pregnancy
  • May be autosomal recessive3

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Differential Diagnosis3

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  • Stickler syndrome
  • Trisomy 11q
  • Trisomy 18
  • Moebius syndrome
  • CHARGE syndrome

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Laboratory Tests

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  • Genetic testing
  • DNA methylation analysis to assess if genetic link

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Imaging

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  • Radiography to assess craniofacial anatomy

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  • Organ anomalies

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Medical Procedures

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  • Surgery to repair the cleft palate

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  • Admittance or continued hospitalization after birth for surgical repair, tracheostomy, gastrostomy, or tympanostomy tubes3
  • Otolaryngologist
  • Geneticist
  • Audiologist
  • Occupational therapist
  • Speech therapist

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  • Inability to achieve or sustain prone position while on elbows
  • Inability to roll
  • Inability to sit
  • Non-ambulatory

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  • Prevent asphyxia until the mandible becomes large enough to accommodate the tongue7
  • Supine positioning contraindicated until jaw grows or until surgical repair5
  • Prone positioning is preferred for infants3, 5
  • Therapeutic exercise
    • Strengthening
    • Stretching
  • Functional activities
    • Transfers
    • Gait training
    • Stair climbing
  • Neurodevelopmental treatment
    • Inhibition of spasticity
    • Facilitation of normal movement patterns
    • Acquisition of motor milestones

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  • Sustain prone position on elbows for two minutes within three months
  • Roll prone to supine ...

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