Esophageal smooth muscle tumor in a 25-year-old woman with congenital malformations

We recently treated a 25-year-old woman with an esophageal smooth muscle tu mor with congenital malformations. Although the large size of the tumor and the presence of hemonecrotic lesion suggested the tumor to be leiomyosarco ma, histological studies revealed it to be leiomyoma. According to previous reports in the English-language literature, the coincidence of esophageal smooth muscle tumor with congenital malformations is relatively rare, and t he coincidence of such a tumor with malformations of the type seen in this patient has never been reported. The congenital malformations in our patien t were ocular hypertelorism, platyrrhiny, bilateral divergent strabismus, c lubbed fingers and toes, fingerprint abnormality, and mild mental retardati on. These congenital malformations cannot be explained by any reported synd romes.