Pierre robin sequence

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

• 756.0 Anomalies of skull and face bones1

• Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

• 5B Impaired neuromotor development

Description

• 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

Essentials of Diagnosis

• May have failure to thrive or severe respiratory distress3

General Considerations

• 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

Demographics

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

Signs and Symptoms

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

Functional Implications

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

Possible Contributing Causes

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

Differential Diagnosis3

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

Laboratory Tests

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

Imaging

• Radiography to assess craniofacial anatomy

• Organ anomalies

Medical Procedures

• Surgery to repair the cleft palate

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

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

• Bayley Scales of Motor Development or Bayley II
• Peabody Scales of Motor Development
• Movement Assessment of Infants
• Neonatal Behavioral Assessment Scale
• Early Intervention Developmental Profile
• Test of Infant Motor Performance
• Alberta Infant Motor Scale

• 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

• Sustain prone position on ...