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2018-12-15  Case of the week # 491  © Martin Horenstein  www.TheFetus.net

Answer to the case of the week # 491
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 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.
       



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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