Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature

ABSTRACT Type II Mayer–Rokitansky–Küster–Hauser (MRKH), also known as MURCS association (Müllerian agenesis, renal agenesis, and cervicothoracic somite anomalies), frequently presents with additional vertebral, renal, auditory, and skeletal anomalies. Due to its rarity and heterogeneous presentation, diagnosis and management remain challenging. This study aimed to contribute a new case of MURCS syndrome and systematically review the literature to assess the spectrum and prevalence of associated vertebral anomalies. We present the case of a 35‐year‐old woman with chronic neck pain and primary amenorrhea. Imaging revealed vertebral segmentation anomalies, Sprengel's deformity, omovertebral bone, scoliosis, and absence of the uterus and left kidney. Genetic testing confirmed a 46,XX karyotype. Multidisciplinary management was initiated with conservative treatment and specialist follow‐up. A systematic literature review following PRISMA guidelines included 40 studies, encompassing 41 patients with MURCS syndrome. The mean age was 20.5 ± 11.2 years, and 87.8% were female. Common presenting symptoms were amenorrhea (41.5%), infertility (17.1%), and neck pain (12.2%). Physical findings included short neck (53.7%), short stature (53.7%), scoliosis (22%), Sprengel's deformity (19.5%), and facial asymmetry (31.7%). Cervical vertebral fusion was the most prevalent anomaly (53.7%), with frequent involvement of levels C2–C3 and C5–C6. This study highlights the underrecognized spectrum of vertebral anomalies in MURCS syndrome. Our case underscores the importance of multidisciplinary evaluation in patients with Müllerian agenesis and musculoskeletal complaints. Standardized reporting and further research are needed to better understand the clinical implications of skeletal anomalies in MURCS syndrome.