西田 眞, 前田 博敬, 佐藤 昌司, 中野 仁雄

Makoto NISHIDA, Hirotaka MAEDA, Shoji SATOH, Hitoo NAKANO

九州大学医学部婦人科学産科学教室

Department of Gynecology and Obstetrics, Faculty of Medicine, Kyushu University

キーワード : Meckel syndrome, Ultrasound, Prenatal diagnosis

Meckel syndrome is an autosomal recessive genetic disorder which is characterised by polycystic kidneys, occipital encephalocele and polydactyly. At least two of these signs should be present to establish the diagnosis, and other malformations such as cleft palate, microcephaly and heart defects are frequently noted. We prenatally diagnosed 3 cases of Meckel syndrome by ultrasonic examination. In all cases ultrasonography revealed oligohydramnios, polycystic kidneys and microcephaly. Occipital encephalocele was also detected in two cases. All newborn infants had polycystic kidneys and occipital encephalocele, but polydactyly was not found in any cases. Since Meckel syndrome is almost always lethal with an autosomal recessive mode of inheritance, prenatal diagnosis is of great significance. Recognizing of this syndrome is important, and therefore careful ultrasonic examination is recommeded.