Pathology · single question
Which syndrome presents with mandibular hypoplasia at birth?
Show answer and explanation
Correct answer: C. Pierre Robin sequence
✓ C) Pierre Robin sequence is correct.
Pierre Robin sequence is characterized by the triad: micrognathia (mandibular hypoplasia at birth), glossoptosis (posteriorly displaced tongue), and cleft palate (U-shaped). The micrognathia prevents normal descent of the tongue during development, causing the tongue to interfere with palatal shelf fusion. Crouzon syndrome features midface hypoplasia (not mandibular). Down syndrome has macroglossia and midface hypoplasia but not the specific birth micrognathia of Pierre Robin.
Pierre Robin sequence is characterized by the triad: micrognathia (mandibular hypoplasia at birth), glossoptosis (posteriorly displaced tongue), and cleft palate (U-shaped). The micrognathia prevents normal descent of the tongue during development, causing the tongue to interfere with palatal shelf fusion. Crouzon syndrome features midface hypoplasia (not mandibular). Down syndrome has macroglossia and midface hypoplasia but not the specific birth micrognathia of Pierre Robin.