A newborn has difficulty feeding with regurgitation through the nose. Inserting a nasogastric tube fails bilaterally. The diagnosis is bilateral choanal atresia. The most common bony or membranous composition of choanal atresia and the congenital association using the CHARGE mnemonic are:

• A Purely membranous (90%); associated with CHARGE syndrome
• B Purely bony (90%); associated with Down syndrome
• C Mixed bony-membranous (70%); associated with DiGeorge syndrome
• D Mixed bony-membranous (70%); associated with CHARGE syndrome ✓

Explanation

Choanal atresia is the most common congenital nasal anomaly. Historically classified as bony (90%) or membranous (10%), more accurate CT-based studies show that ~70% are mixed bony-membranous and only ~30% are purely bony; purely membranous is rare. Bilateral choanal atresia is a neonatal emergency (cyclic cyanosis relieved by crying — obligate nasal breathers). CHARGE syndrome (Coloboma, Heart defects, Atresia choanae, Retarded growth, Genital abnormalities, Ear abnormalities) is the most important association, caused by CHD7 gene mutations. Down syndrome is associated with congenital hearing loss but not specifically choanal atresia.

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.