Iniencephaly: Radiological and pathological features of a series of three cases

Abstract

ABSTRACTIniencephaly is a rare form of neural tube defect with an incidence of 0.1-10 in 10,000 pregnancies. It is characterized by the presence of occipital bone defects at foramen magnum, fixed retroflexion of head, spinal dysmorphism, and lordosis of cervicothoracic vertebrae. It is usually associated with central nervous system, gastrointestinal, and cardiovascular anomalies. We present radiological and autopsy findings in a series of 3 cases of iniencephaly (gestational ages 29.3, 23, and 24 weeks) first fetus in addition showed omphalocele, pulmonary hypoplasia, two lobes in right lung, accessory spleen, atrial septal defect, bilateral clubfoot, ambiguous genitalia, and single umbilical artery. Second fetus was a classical case of iniencephaly apertus with spina bifida. Third fetus had colpocephaly and bifid spine.