A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.

Abstract

LUMBAR syndrome is characterized by lower body segmental infantile hemangiomas, urogenital abnormalities/hemangioma ulceration, spinal cord malformations, bony deformities, anorectal malformations/arterial anomalies, and/or renal anomalies. Here we present an infant girl with LUMBAR syndrome who was also discovered to have Müllerian agenesis, defined as absent uterus or nonfunctional uterine remnants. While vaginal and uterine duplications are included among the diagnostic criteria for LUMBAR syndrome, this is the first case of associated Mullerian agenesis. This report also provides more evidence that LUMBAR syndrome be included in the spectrum of clinically overlapping disorders characterized by caudal dysgenesis, known as "recurrent constellations of embryonic malformations."