MCKUSICK-KAUFMAN-SYNDROME - PRENATAL-DIAGNOSIS AND CLINICAL MANAGEMENT

We report a case of prenatally diagnosed McKusick-Kaufman syndrome in a 28-year-old patient who was investigated because of feta I ascites a t the 28th week of gestation. Ultrasound examination showed a female f etus with postaxial hexadactyly of both upper extremities, massive asc ites, hyperechogenic enlarged kidneys and three abdominal cysts, repre senting dilated uterus vagina and bladder, indicating McKusick-Kaufman syn drome to be likely. Chromosomal analysis revealed a normal karyot ype. Because of progressive fetal skin edema, elective Cesarean sectio n was performed at the 31st week of gestation. A 2200-g female with Ap gar scores of 6/8/9 was delivered. Postnatal examination confirmed the antenatal diagnosis. In addition, an atrial septal defect and congeni tal intestinal aganglionosis were found. Surgical urogenital reconstru ction was performed at 6 weeks of age with good results.