P363: Schinzel–Giedion syndrome due to mosaic SETBP1 pathogenic variant in an infant with multisystemic malformations: A case report
Abstract
Management has been multidisciplinary, including cardiology, neurology, nephrology, orthopedics, audiology, ophthalmology, endocrinology, and genetics. Interventions include postoperative monitoring of the aortic repair, seizure control with valproate (despite continued breakthrough seizures), orthopedic care for hip dysplasia and foot deformities, and urology follow-up for cryptorchidism. Early-intervention therapies focus on motor development, though progress remains minimal. Given the known malignant predisposition associated with SETBP1 gain-of-function, hematologic surveillance is ongoing.
Fields of Study & Subjects
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103857–103857
- Publication date
- 1 January 2026
- Language
- EN