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A newborn has severe micrognathia causing the tongue to fall back (glossoptosis), resulting in upper airway obstruction. A U-shaped cleft palate is also present.
Heterogeneous
- Isolated (non-syndromic): often associated with SOX9 regulatory region
- Syndromic: part of Stickler syndrome, 22q11.2 deletion, others
The sequence:
- Micrognathia →
- Glossoptosis (tongue falls back) →
- U-shaped cleft palate (from tongue preventing palatal shelf fusion)
- Upper airway obstruction
- Clinical diagnosis based on the triad of micrognathia, glossoptosis, and (usually U-shaped) cleft palate with airway obstruction
- May be identified prenatally by micrognathia on ultrasound; confirmed by postnatal exam
- Sleep study and airway endoscopy assess the degree of obstruction
- Evaluate for an underlying syndrome (especially Stickler; also 22q11.2 deletion): ophthalmology exam, hearing evaluation, and genetic testing as indicated
- Prone positioning
- May need nasopharyngeal airway, tongue-lip adhesion, or mandibular distraction
- Always evaluate for underlying syndrome (especially Stickler)
"PierRe-Robin = Respiratory obstruction": the key complication is upper airway obstruction due to glossoptosis.
Pierre-Robin sequence in STickler: think "...PQRST..." (the sequential letters P, Q, R, S, T link Pierre-Robin to STickler syndrome, the most common underlying syndromic cause).