P337: CHD3-related Snijders Blok Campeau syndrome with syringomyelia without Chiari malformation
Abstract
At 4 years of age, the patient underwent cervical spine surgery for correction of a tethered cord; however, this intervention did not resolve the associated syringomyelia, which continues to be monitored by her neurosurgeon. To support her developmental progress, she remains under the care of a multidisciplinary team that includes developmental pediatrician, speech therapist, physical therapist, physical and medical rehabilitation specialist, and our genetics team.
Fields of Study & Subjects
Spinal Dysraphism and Malformations
Fetal and Pediatric Neurological Disorders
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103831–103831
- Publication date
- 1 January 2026
- Language
- EN