Iniencephaly

Iniencephaly is a rare neural tube defect resulting in the following features 1-2:

  • occipital bone defect
  • partial or total absence (rachischisis)  of cervico-thoracic vertebrae 
  • fixed fetal head retroflexion

The estimated incidence is at ~0.1-10 per 10,000 live births 5. There is a recognised female predilection 5.

The exact aetiology is unknown. 

Subtypes
Markers
Associations
Antenatal ultrasound

The fetus is described to have a fixed " stargazer" type extended posture. Other features include:

  • exaggerated cervico-thoracic lordosis
  • deficient (short) or fused cervical vertebrae
  • variable deficit in occipital bone
  • due the the head position, the fetal crown rump length may be lower than expected for gestational age
  • may have concurrent polyhydramnios

Iniencephaly is almost always lethal. However usually there is no increased risk of recurrence in future pregnancy.

Derived from the Greek words inion = back of head and encephalos = brain.

For an extended head position on antenatal ultrasound consider:

  • physiological cervical hyperextension: transient , no occipital body defects and/or vertebral anomalies
  • Klippel Feil syndrome
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Article information

rID: 10294
Tag: cases
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Cases and figures

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    Iniencephaly with...
    Case 1: with concurrent CDH
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