Publication:

MURCS association with absent hand and unusual vertebral anomaly

Mullerian duct aplasia, Renal aplasia and Cervicothoracic Somite dysplasia (MURCS association) is a developmental field defect, diagnosed if both aplasia/hypoplasia of the Mullerian duct, renal agenesis/ectopy and anomalies of the cervicothoracic somites are present. We report a case of MURCS Association with the above features, absent hand, T12 Hemi vertebra and an exophytic bony outgrowth from C5 vertebra. An exophytic bony projection from the spinous process of C5 vertebra, presenting as a swelling over the neck has not been described previously as a skeletal malformation in MURCS Association. Absent hand as a skeletal malformation in MURCS association was not seen in the earlier literature. This case is reported since it adds to the wide spectrum of anomalies associated with MURCS association and helps in distinguishing MURCS association from the syndromes which may show overlap.