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Craniofacial malformations (antenatal ultrasound)

Case contributed by Mostafa Elfeky
Diagnosis almost certain

Presentation

Referred for assessment of fetal hydrocephalus.

Patient Data

Age: 30 years
Gender: Female

Macrocephaly with moderate supratentorial hydrocephalus. Right lateral ventricle measures 32 mm and the left one measures 18 mm.

Bilateral microphthalmia.

Left microtia, with a deformed low-set ear. The right ear is not demonstrated in study images.

Cleft lip and palate (type IV). The upper lip cleft measures about 17 mm in length.

Case Discussion

Obvious fetal hydrocephalus. Supratentorial hydrocephalus may be due to small posterior fossa (Chiari I malformation) or aqueductal stenosis.

Cleft lip and palate are better examined with 2D mode and are best appreciated on angled coronal scanning.

These complex craniofacial malformations raise the possibility of a genetic syndrome that would be further investigated postnatally.

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