P354: Mosaic FBXW7-related neurodevelopmental disorder presenting with developmental delay, hypotonia, expressive language delay, anorectal malformation, and proximal aorta dilation
Abstract
There is no specific treatment for FBXW7-related neurodevelopmental disorder. The patient was referred to neurology, cardiology, and developmental pediatrics for evaluation/surveillance. She started levetiracetam following abnormal EEG with improvement in abnormal spells and epileptiform discharges. Echocardiogram revealed aortic root/ascending aorta dilation (Z-scores +2.5/+2.2) not requiring surgical intervention. She received physical, occupational, and speech therapies with improvement in motor milestones.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103848–103848
- Publication date
- 1 January 2026
- Language
- EN