MRKH syndrome associated with TAR syndrome, they pose an interesting relationship between the development of the limb buds and the müllerian ducts

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina, with bilateral nonfunctional rudimentary uteri. The MRKH syndrome is frequently associated with anomalies of the urinary tract, skeleton, and less frequently with cardiac defects. Ovarian function is normal, and the karyotype of the patients is always 46,XX. The authors describe the association of the Mayer-Rokitansky-Küster-Hauser syndrome with thrombocytopenia-absent radius syndrome (TAR). The report by Griesinger et al. is not the first time that the Mayer-Rokitansky-Küster-Hauser syndrome has been described in association with various types of rather well-delineated skeletal dysplasias (1). The association of MRKH syndrome with the Klippel-Feil syndrome has been known for quite a while, and the association with Holt-Oram syndrome (HOS) was recently described for the second time by Ulrich et al. (2, 3).