Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

Denise Metry, Hillary L. Copp, Kristy L. Rialon, Ionela Iacobas, Eulalia Baselga, William B. Dobyns, Beth Drolet, Ilona J. Frieden, Maria Garzon, Anita Haggstrom, Darrell Hanson, Laura Hollenbach, Kim M. Keppler-Noreuil, Mohit Maheshwari, Dawn H. Siegel, Shamaila Waseem, Mark Dias

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. Study design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. Conclusions: 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 serve as a starting point for prospective studies to establish formal screening and management guidelines.

Original languageEnglish (US)
Article number114101
JournalJournal of Pediatrics
Volume272
DOIs
StatePublished - Sep 2024

Bibliographical note

Publisher Copyright:
© 2024 The Author(s)

Keywords

  • MURCS association
  • OEIS complex
  • PELVIS syndrome
  • PHACE syndrome
  • SACRAL syndrome
  • anorectal malformations
  • bony defects
  • renal anomalies
  • segmental infantile hemangioma
  • spinal cord malformations
  • urogenital anomalies

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