Case of the Week # 491

Martin Horenstein, MD

March 14, 2019 - March 28, 2019

Diagnóstico Gineco-Obstétrico, Mendoza, Argentina.

Case report

20-year-old (G1P0) patient was referred to our ultrasound center al 24,4 weeks of pregnancy due to suspicion of the skeletal dysplasia. Both parents had negative personal nor family history. Pregnancy was otherwise uncomplicated.
Our ultrasound examination revealed the following findings:

Images 1-6.

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Videos 1-4.

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Answer

Case report

20-year-old (G1P0) patient was referred to our ultrasound center al 24 weeks 4 days of pregnancy due to suspicion of the skeletal dysplasia. Both parents had negative personal nor family history. Pregnancy was otherwise uncomplicated.
Our ultrasound examination revealed the following findings

- Long bones below 5th percentile;
- Multiple fractures;
- Long bones were curved and bowed;
- Hypomineralization and softening of the fetal skull;

Based on the ultrasound findings the proposed diagnosis was Osteogenesis Imperfecta, type II.

The fetus was born at 36 weeks by C-Section and died 6 hours after birth.

Postnatal X-ray, pathological and genetic examination confirmed the prenatal findings and the diagnosis.

Images 1-6: 2D and 3D images showing hypomineralization of the fetal skull which was compressible during the examination, short and bowed long bones and multiples fractures.

Image 1
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Videos 1-4: 2D images showing hypomineralization of the fetal skull which was compressible during the examination, short and bowed long bones and multiples fractures.

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