Abstract
Mckusick-Kaufman syndrome (MKS)is a rare autosomal recessive disorder characterized by the hydrometrocolpos and postaxial polydactyly. We presented a newborn patient with MKS, and this paper is first case report of MKS in Japan. Our case had the giant hydrometrocolpos, the bilateral hydronephrosis and postaxial polydactyly hydronephrosis and postaxial polydactyly of the left foot. The vaginostomy was carried out on the lapatomy five hours after birth. The vaginovesical fistura was found by the vaginography through the vaginostomy 14 days after the operation. We were following patient for repreated cystitis for six month, thereafter fistulectomy and vaginal pullthrough were carried out. 70 cases with MKS in USA and Europe were reported. These cases had various kinds of congenital deformities (cardiac anomalies is 10 cases, Hirschsprung's disease 5, rectovaginal fistura 5, imperforate anus 4, and urethrovaginal fistura 2etc.) and secondary complications due to the dilated vagina (hydronephrosis is 27 cases, hydroureters 16, edema of legs 5 and lung hypoplasia 5 etc.)
