98%
921
2 minutes
20
Choanal atresia is a rare developmental condition that is defined as a narrowing or complete blockage of the nasal passages. Rapid surgical management is crucial in cases of bilateral choanal atresia since it may develop into a life-threatening emergency. We present the case of a full-term female newborn who developed mild respiratory distress soon after birth. The pediatrician was not able to insert a feeding tube through the nostrils despite repeated attempts. Cranial computed tomography confirmed the diagnosis of bilateral choanal atresia with an ectopic nostril. Furthermore, echocardiography demonstrated moderate atrial septal defect. The newborn underwent a successful correction of this anomaly via the trans-nasal surgical approach.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732805 | PMC |
http://dx.doi.org/10.7759/cureus.11437 | DOI Listing |
J Clin Res Pediatr Endocrinol
September 2025
İnönü University Faculty of Medicine, Department of Medical Genetics, Malatya, Türkiye.
CHARGE syndrome is an autosomal dominant disorder caused by variations in the CHD7 gene. The characteristic findings of the syndrome include coloboma (C), heart anomalies (H), choanal atresia (A), growth and developmental delay (R), genitourinary system anomalies (G), and ear anomalies and/or hearing loss (E). A 7.
View Article and Find Full Text PDFAm J Rhinol Allergy
September 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
IntroductionChildren with choanal atresia (CA) typically present with nasal obstruction and require surgical intervention to establish a patent airway. Transnasal endoscopic surgery is the preferred treatment approach. However, long-term outcome data are lacking.
View Article and Find Full Text PDFJ Med Genet
August 2025
Department of Pediatrics, Mahidol University, Bangkok, Thailand
Background: Duplication of the pituitary gland (DPG)-plus syndrome is an extremely rare developmental malformation of unknown aetiology.
Methods: Two unreported patients of DPG-plus syndrome are described. Underlying genetic defects were explored, including chromosomal microarray (CMA), whole exome sequencing (WES) and mRNA analysis.
J Craniofac Surg
August 2025
Department of Otorhinolaryngology Head and Neck Surgery.
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.
View Article and Find Full Text PDF