Bilateral Choanal Atresia With Facial Deformity.

BACKGROUND

Bilateral choanal atresia is a rare condition. Secondary posterior choanal atresia typically results from trauma, radiotherapy, and chemotherapy, whereas congenital cases are primarily caused by gene mutations. Congenital bilateral choanal atresia often presents as complete nasal congestion and discharge, which, if not promptly diagnosed and treated, can lead to fatal asphyxia.

METHODS

This condition is rare and rarely reported in adults, and here we report a case of bilateral posterior nostril atresia in an 18-year-old male. The patient presented with congenital bilateral posterior anal atresia, congenital atrophy of the left eye, amblyopia of the right eye with congenital glaucoma, cataract, maxillofacial deformity, hyposmia, and short stature. We documented the entire diagnosis and treatment process and conducted whole-genome sequencing of the patients and their parents.

RESULTS

The patient's symptoms resolved after surgery, while whole-genome sequencing revealed no genetic abnormalities.

CONCLUSIONS

The patient had a good prognosis at a follow-up visit 3 months after surgery. It was thought that the patient's posterior anal atresia and facial deformity might be related to the mother's self-medication during pregnancy.