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

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• LUMBAR syndrome and OEIS complex are rare congenital disorders with overlapping features.
• Recurrent constellations of embryonic malformations (RCEMs) is a proposed umbrella term for disorders of caudal dysgenesis.
• Both LUMBAR syndrome and OEIS complex have been suggested to be part of the RCEM spectrum.

Purpose of the Study:

• To report on infants presenting with combined features of LUMBAR syndrome and OEIS complex.
• To provide evidence supporting the inclusion of LUMBAR syndrome within the RCEM spectrum.
• To further delineate the phenotypic spectrum of caudal dysgenesis disorders.

Main Methods:

• Clinical case series presentation of three new and six previously published infants.
• Review of clinical features, including lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies, renal anomalies (LUMBAR), and omphalocele, exstrophy, imperforate anus, and spinal defects (OEIS).
• Comparison of patient phenotypes with established criteria for LUMBAR syndrome, OEIS complex, and the broader RCEM classification.

Main Results:

• Infants presented with overlapping clinical features of both LUMBAR syndrome and OEIS complex.
• The observed overlap supports the concept of a shared pathogenesis and spectrum of disease.
• This finding is the first to demonstrate a direct overlap between LUMBAR and another RCEM (OEIS complex).

Conclusions:

• LUMBAR syndrome and OEIS complex represent overlapping conditions within the spectrum of RCEMs.
• The findings support the classification of LUMBAR syndrome as an RCEM.
• Further research into the shared pathogenesis of these rare developmental disorders is warranted.