Abstract
A 33-year-old para-3 was admitted in the 33rd week of gestation because of a suspected foetal anomaly. Ultrasound examination showed polyhydramnios, exaggerated cervico-thoracic lordosis and significant shortening of the spine because of a reduced number of vertebrae. The facial profile was flat, the foetal movements were rare and slow, and the extremities normal. A biopsy of the placenta revealed a normal female karyotype. Based on ultrasound examination, the diagnosis of iniencephaly was made. Because of the fatal prognosis of this malformation, labour was induced at 35 weeks of gestation. The patient delivered spontaneously. The infant died after 90 minutes. The postmortem examination confirmed the diagnosis of iniencephaly. Iniencephaly is a very rare malformation comprising a bone defect at the occiput, malformation of the cervical and thoracic vertebrae, spina bifida, and retroflexion of the head. The aetiology is not clear. 90% of the probands are female. The malformation is incompatible with survival after birth.
Hammer, Felix