Case of the Week # 430

Irina Glazkova, MD; Konstantin Alekhin, MD; Julia Kyyashko, MD

September 29, 2016 - October 13, 2016.

Donetsk

Case report

A healthy 24-year old woman with unremarkable history (G2P1) was sent to our institution with the suspicion of microcephaly on her first ultrasound examination.

Our ultrasound examination at 18-19 weeks of gestational age revealed the following findings:

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Answer

Case report

A healthy 24-year old woman with unremarkable history (G2P1) was sent to our institution with the suspicion of microcephaly on her first ultrasound examination.

Our ultrasound examination at 18-19 weeks of gestational age revealed the following findings:

- Atelencephaly with microcephaly 
- Anophthalmia
- Arhinia
- Mild dystopia of right kidney.

Following images support our prenatal diagnosis of atelencephaly with microcephaly, showing the formation of the diencephalon only and absence of telencephalic structures. The diagnosis was confirmed postnatally.

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