First-Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome

Journal

Prenatal diagnosis (Q1)

Published

26 July 2026

Study design

Case series / case report

Evidence level

Level 4, Very Low (CEBM 4)

Authors

Patrik Šimják, Jan Král, Dagmar Rašková, Monika Koudová, David Stejskal

PMID

42503228

DOI

10.1002/pd.70227

For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.