A neonate is found to have bilateral choanal atresia at birth. Which of the following congenital syndromes most commonly includes choanal atresia as a component?
- A CHARGE syndrome ✓
- B Treacher Collins syndrome
- C Pierre Robin sequence
- D Goldenhar syndrome
Correct answer: A. CHARGE syndrome
Explanation
CHARGE syndrome (Coloboma, Heart defects, Atresia choanae, Retardation of growth, Genital abnormalities, Ear abnormalities) is the most commonly associated syndrome with choanal atresia, and choanal atresia is in fact one of the defining criteria. It is caused by CHD7 gene mutations. Treacher Collins causes mandibulofacial dysostosis without choanal atresia. Pierre Robin is a sequence involving micrognathia, glossoptosis, and cleft palate. Goldenhar involves hemifacial microsomia and ear anomalies.
Reference: Dhingra Diseases of Ear, Nose and Throat, 7th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.