Question

A patient presents with a bird-like facial appearance, micrognathia, cleft palate, and glossoptosisThese clinical features are characteristic of which syndrome?

• A. Treacher Collins syndrome
• B. Pierre Robin sequence
• C. Parry-Romberg syndrome
• D. Melkersson-Rosenthal syndrome

Hint:

Micrognathia + Glossoptosis + Cleft palate → Think Pierre Robin sequence.

Answer 1

The Correct Option is B

Step 1: Identifying Key Clinical Features.
The patient presents with micrognathia (small mandible), glossoptosis (downward and backward displacement of the tongue), cleft palate, and a bird-like facial appearanceThese findings together form a classical clinical triad
Step 2: Understanding Pierre Robin Sequence.
Pierre Robin sequence is characterized by the triad of micrognathia, glossoptosis, and cleft palateMicrognathia leads to posterior displacement of the tongue, which interferes with palatal closure during developmentThis results in cleft palate formation
Step 3: Excluding Other Options.
Treacher Collins syndrome presents with mandibulofacial dysostosis but does not classically present with glossoptosis as a defining feature
Parry-Romberg syndrome involves progressive hemifacial atrophy
Melkersson-Rosenthal syndrome presents with facial swelling, facial palsy, and fissured tongue
Step 4: Conclusion.
Since the triad of micrognathia, glossoptosis, and cleft palate is diagnostic, the correct answer is Pierre Robin sequence