A newborn has respiratory distress that worsens when supine and improves in the prone position. Examination shows a small receded mandible, and the tongue falls back obstructing the airway. There is also a wide U-shaped cleft of the soft palate. What is the diagnosis?

• A Goldenhar syndrome
• B Treacher Collins syndrome
• C Pierre Robin sequence ✓
• D Crouzon syndrome

Explanation

Pierre Robin sequence is the triad of micrognathia, glossoptosis with resultant upper airway obstruction, and a characteristic U-shaped cleft palate. The small mandible keeps the tongue posterior, so symptoms worsen supine and improve prone, which is also first-line management. Treacher Collins is a bilateral mandibulofacial dysostosis with anterolateral lower lid colobomas, Goldenhar features epibulbar dermoids and hemifacial microsomia, and Crouzon is craniosynostosis with proptosis.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.