Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies

Clinical Features

Duncan et al. (1979) reported 2 female patients and 28 others in the literature with the combination of mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS). The authors postulated an alteration affecting blastemas of the lower cervical-upper thoracic somites, arms buds, and pronephric ducts, all of which have a relationship at the end of the fourth week of fetal life.

Patients have also been reported with the association of urogenital and middle ear anomalies (see 267400).

Park et al. (1971) described 2 unrelated females with absent vagina, Klippel-Feil deformity of the cervical spine (see 118100), short stature, and conductive deafness from malformation of the temporal bones and ossicles. Secondary sexual characteristics were normal. One of the patients had absent left kidney and ectopic right kidney. Baird and Lowry (1974) described 2 unrelated patients who had absent vagina and Klippel-Feil anomaly, but no deafness. The abnormality in sexual development in this syndrome was similar to that seen in the Rokitansky-Kuster-Hauser syndrome (277000). The patients reported by Park et al. (1971) and Baird and Lowry (1974) are consistent with MURCS (Gorlin et al., 2001).

Colavita et al. (1986), Greene et al. (1986), Mendez et al. (1986), and Suri et al. (2000) reported additional cases of MURCS association.

Wellesley and Slaney (1995) reported a 28-year-old man with Klippel-Feil deformity, left renal agenesis and right dysplastic kidney, who had thin vasa deferentia; the authors suggested that this represented MURCS in a male patient. Zlotogora (1995) reported a similar patient with Klippel-Feil anomaly and azoospermia in whom bilateral agenesis of the vas deferens was diagnosed; the patient did not return for renal analysis. Zlotogora (1995) suggested that wolffian anomalies in males represent the phenotype corresponding to mullerian anomalies in females.

Lin et al. (1996) described the combination of MURCS association and occipital encephalocele in a stillborn girl of 41 weeks' gestation. The malformations in this disorder are compatible with a defect in the organization of the paraxial mesoderm that gives rise to occipital, cervical, and thoracic somites and adjoining intermediate mesoderm. These structures contribute to the occipital bone, cervical spine, upper limbs, and urogenital system.

Meschede et al. (1998) described a 34-year-old man with a type 2 Klippel-Feil anomaly and nonobstructive azoospermia, who underwent bilateral surgical repair of cryptorchidism in childhood and had a small unilateral renal cyst but no other anomalies of the kidneys or urinary tract. The patient also reported mild hearing loss in the left ear. The authors suggested the acronym ARCS association, for azoospermia, renal anomalies, and cervicothoracic spine dysplasia, to designate this association when found in males.

McGaughran (1999) reported a 57-year-old man with a type 2 Klippel-Feil anomaly and azoospermia, who underwent perineal hypospadias repair in childhood; upon examination he had a small, soft right testis with an apparently detached epididymis on palpation, and a nearly nonpalpable left testis with intact spermatic cord and vas deferens. Renal ultrasound was normal; the patient also had sensorineural hearing loss.

Lopez et al. (2002) described the MURCS association with duplicated right thumb in a 29-year-old female. Differentiation should be made between the MURCS association and the VACTERL association (192350), in which genital anomalies are not a feature. Both associations appear to be sporadic.

Pittock et al. (2005) found that 4 (16%) of 25 patients with Mayer-Rokitansky-Kuster-Hauser anomaly had all the features of MURCS, suggesting an association between the 2 conditions.

Guerrier et al. (2006) reviewed the clinical features of the MRKH syndrome and MURCS association phenotypes and discussed genetic hypotheses. Noting that combinations of wolffian duct agenesis or severe hypoplasia with or without renal and/or skeletal anomalies have been described, the authors suggested that the term GRES syndrome (for genital, renal, ear, and skeletal) might be more appropriate when applied to both sexes.

Tan et al. (2007) reported a 15-year-old girl with features of MURCS, including bicornuate uterus, unilateral ovarian agenesis, multicystic dysplastic kidney, and cervical block vertebrae, who also had seizures, mental retardation, cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate, and patent ductus arteriosus. Tan et al. (2007) suggested that this patient represents a more severe form of MURCS, which they designated 'MURCS-plus.'

Gardner et al. (2007) reported a 32-year-old woman with fusion of 2 cervical vertebrae and a unicornuate uterus, who also had radial ray anomalies, with bilateral thenar muscle hypoplasia and absent radial pulses. The authors suggested that this patient had incomplete MURCS. They noted previously reported MURCS patients with thenar anomalies, including 2 patients with features of MURCS and unilateral hypoplastic thumb (Michels and Caskey, 1979), and the patient with MURCS described by Lopez et al. (2002), who also had a duplicated thumb.

Al Kaissi et al. (2009) described a 17-year-old girl who had been followed since childhood due to congenital thoracolumbar kyphoscoliosis. At age 17 years, menstruation had not started, and pelvic ultrasound revealed vaginal atresia, fallopian tube aplasia, bicornuate uterus, and ovarian dysplasia. Endocrine investigation showed normal hormone levels. Her neck was short and curved, with obvious torticollis; 3-dimensional (3D) reconstruction CT scan revealed assimilation of the entire anterior arch of the atlas with the foramen magnum, as well as congenital block vertebrae superimposed by progressive ossification of the anterior longitudinal spine ligaments along T4 to T9. Abdominal 3D reconstruction CT scan showed hypertrophied congenital left solitary kidney. Al Kaissi et al. (2009) stated that this appeared to be the first report of a MURCS patient with occipitoatlantoaxial junction malformation and ankylosing vertebral hyperostosis, and suggested that MURCS patients should be evaluated with 3D CT scan, especially if they experience symptoms of myelopathy.