Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Iniencephaly
Introduction

Neural tube defect involving the occiput combined with rachischisis of the cervical and thoracic spine with extreme retroflexion of the head.

Inion  —  greek word for occiput.

Clinical signs

Fatal condition, consistent with anencephaly.

Macroscopic appearance
  • extreme retroflexion of the head, fusion of the skin of the face and thorax because of absent neck
  • overall shortening of the fetus
  • variable deficit of the occipital bones, enlarged foramen magnum
  • malformed cervical and thoracic spine:
    • cervical lordosis
    • partial or total absence of vertebrae
    • fusion of the vertebrae
    • imcomplete closure of the vertebral arches
  • open neural tube defect, rarely closed defect
  • can be asocciated with acrania

Iniencephaly (72743)

Pictures

16 week male fetus, iniencephaly and craniorhachischisis; karyotype 46XY: Ineincephaly, Macro, autopsy (72742) Ineincephaly, Macro, autopsy (72743)

The same case, US examination: Iniencephaly, Ultrasound (72980)