BMJ Case Rep. 2025 Oct 23;18(10):e267389. doi: 10.1136/bcr-2025-267389.
ABSTRACT
We report the case of a male infant born at 37 weeks and 4 days of gestation with a birth weight of 3396 g. He presented with hypotonia, congenital heart disease, heterotaxy and polydactyly. Based on physical examination and brain MRI, which revealed the characteristic molar tooth sign, he was diagnosed with Joubert syndrome and related disorders (JSRD). He experienced repeated episodes of atelectasis, making extubation challenging. Electron microscopy revealed ciliary structural abnormalities, leading to the diagnosis of primary ciliary dyskinesia as well as JSRD. Despite multiple medical interventions and two surgical procedures for heart failure, he died at 10 months old due to progressing chronic heart failure and pulmonary infections.This report presents the course leading to the diagnosis of ciliary dysfunction-associated multiple malformations, based on the diverse symptoms. Furthermore, we discuss the potential risk of postoperative complications associated with ciliary dysfunction.
PMID:41130729 | DOI:10.1136/bcr-2025-267389
