2024-05-15
Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome
2024-05-15 • Denise W. Metry, Hillary L. Copp, Kristy L. Rialon, Ionela Iacobas, Eulàlia Baselga, William B. Dobyns, Beth A. Drolet, Ilona J. Frieden, Maria C....
These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will ser…