Case of the Week # 486

Karine Otaryan, MD

Affiliation: Demikhov City Hospital Moscow, Russia

Posting dates:  January 3, 2019 - January 17, 2019

Case report:  23-year old primigravida with unremarkable history visited our unit for routine ultrasound at 20 week of pregnancy. No anomalies were detected during the first trimester study at 12 week of pregnancy. Ultrasound revealed the following findings.

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Answer

We present a case of  FATCO (fibular aplasia, tibial campomelia and oligosyndactyly).

The ultrasound images revealed the following findings:
- double sided fibular aplasia.
- tibial campomelia.
- abnormal shape of the feet.

The pregnancy was interrupted and the diagnosis of FATCO was confirmed on X- ray and postmortem examination.

Skeletal radiographs confirm bilateral complete absence of the fibula. Both tibiae appear shortened and bowed anteriorly, and the feet appear dysmorphic with absence of the metatarsal rays bilaterally. These findings are confirmed in the macroscopic visualization of the fetus: short legs with a sharp angulation, badly oriented feet and absence of toes.

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