P360: A rare metabolic disorder with phenotypic overlap to VACTERL: Milder presentation of congenital NAD deficiency disorder
Abstract
Following diagnosis, she continued to follow with Orthopedics, Cardiology and Ophthalmology. Spine MRI will be completed in the future with potential surgical intervention being considered. Her PDA required device closure which she tolerated well. Baseline Cleft/Craniofacial and Audiology evaluations were notable for absent distortion product otoacoustic emissions. She had normal renal function assessment in the context of small kidneys. Neurodevelopmental evaluation was reassuring aside from mild speech delay for which she is receiving therapy.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Congenital gastrointestinal and neural anomalies
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103854–103854
- Publication date
- 1 January 2026
- Language
- EN