ÖZET

Background:

Iniencephaly is a rare craniocervical deformity characterized by marked, fixed retroflexion of the head and a short, immobile neck. We report a case of iniencephaly diagnosed prenatally by ultrasound examination.

Case presentation:

A 20-year-old gravida 1 woman was first seen in our antenatal clinic at 24 weeks' pregnancy. On ultrasound examination a fixed retroflexion of the head, severe microcephaly, anencephaly, meningocele, deformed spine with cervical dysraphism, and omphalocele were found. She delivered a 440 g, 24 weeks- old female fetus. Postmortem examination confirmed the diagnosis of iniencephaly.

Discussion:

The ultrasonic diagnosis of iniencephaly should be based on the finding of extreme retroflexion of the head accompanied by an abnormally short and deformed spine. Early diagnosis and termination of pregnancy reduces the maternal risks. The mother should be recommended folic acid supplementation for future pregnancies.