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

Creator(s)

Sonia A. Havele
Kimberly A. Horii, Children's Mercy HospitalFollow
Denise W. Metry
Ashli A. Lawson, Children's Mercy HospitalFollow
Rebecca M. Rentea, Children's Mercy HospitalFollow
Amy J. Nopper, Children's Mercy HospitalFollow

Document Type

Article

Publication Date

7-2025

Identifier

DOI: 10.1111/pde.15870

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."

Journal Title

Pediatric dermatology

Volume

42

Issue

4

First Page

817

Last Page

821

MeSH Keywords

Humans; Female; Infant, Newborn; Vagina; Uterus; Abnormalities, Multiple; Mullerian Ducts; Syndrome; Congenital Abnormalities; Urogenital Abnormalities

PubMed ID

39888106

Keywords

Müllerian agenesis; congenital anomaly; hemangioma

Recommended Citation

Havele SA, Horii KA, Metry DW, Lawson A, Rentea RM, Nopper AJ. A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome. Pediatr Dermatol. 2025;42(4):817-821. doi:10.1111/pde.15870