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.