Anencephaly

Case contributed by Islam Mohamed El Gezeiry
Diagnosis certain

Presentation

Routine antenatal ultrasound scan at 17 weeks of gestational age.

Patient Data

Age: 20 years
Gender: Female
ultrasound

A single intrauterine fetus at 17 weeks of gestation by AC and FL, with an absence of brain tissue and bony calvarium and a "Frog eye" appearance upon coronal section of the face.

3D images showing absence of the cranial vault.

Case Discussion

Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterised by the absence of cortical tissue (although brainstem and cerebellum may be variably present) as well as absence of the cranial vault.

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