LUMBAR syndrome–OEIS complex overlap: A case series and review

L. Barrios, S. Chamlin, Kim M. Keppler-Noreuil, K. L. Rialon, Paul Austin, A. Alhajjat, D. Bowen, Denise W. Metry*, D. H. Siegel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2024

Keywords

  • LUMBAR
  • OEIS
  • bladder exstrophy
  • cloacal exstrophy
  • omphalocele
  • spinal dysraphism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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