산전 초음파로 진단된 대후두공뇌탈출기형 1예

Abstract

Iniencephaly is an abnormality in cervical vertebra associated with an excessive lordosis of the cervicothoracic spine and neural tube closure defects. The incidence is one of 1,000 to 10,000 live birth. The pathogenesis is unknown. It is possible that iniencephaly is a primary defects in fetal cervical development and the resulting lordosis cause a failure of neural tube closure. Specific sonographic findings are over extended fetal head, very short and modified thorax, generally shortened fetal long bones and frequent associating anencephaly and meningomyelocele. Fetal alpha-fetoprotein elevation may be present. Iniencephaly, when diagnosed in utero, is almost always lethal. We experienced a case of iniencephaly in a fetus of intrauterine pregnancy at 17 weeks diagnosed by prenatal ultrasonography who was terminated because of ultrasonic demonstration of other multiple anomalies. Thus, we report a case with brief review of the literature.