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Articles » Skeletal » Osteogenesis Imperfecta » Osteogenesis imperfecta type II

2010-06-10-14 Osteogenesis imperfecta type II © Muresan

Osteogenesis imperfecta type II


Marius Bogdan Muresan, MD.* , Maria Cezara Muresan, MD.**, Marioara Boia, MD.***

*   Medical Center of Dr.Muresan, Timisoara, Romania.
**  Department of Obstetrics and Gynecology, V. Babes medical University, Timisoara, Romania.
*** Pediatrics Department,
V. Babes medical University, Timisoara, Romania.

Case report

A 43-year-old G1 P0 was referred to our center at 35 weeks of gestation. Her personal and family history were non contributive. Her previous ultrasound scans in the 1st and 2nd trimester were done by her family practitioner. There was no abnormality detected during these examinations.

Our ultrasound examination performed at 35 weeks of gestation showed marked shortening of all long bones, they measured less than 5th percentile.
We detected a fracture of one of the femur bones. There were no other fractures visible.

Chest and 4-chamber view looked normal. There were no anomalies of the hands or feet. The amount of the amniotic fluid was normal.

Patient delivered the next day via cesarean section, due to a premature rupture of membranes. It was a male neonate of 1600 grams. The clinical examination confirmed dwarfism and fracture of the right femur. Neonate had a blue sclerae.

The X-ray images of the neonate showed multiple healing fractures and new bone fractures as well. The bones were curved and deformed due to previous fractures.

The final diagnosis based on the above findings and genetic examination was osteogenesis imperfecta type II.

The baby is 2-months-old at the moment. He is in the critical condition due to serious respiratory problems and increasing number of the fractures.

(Note from PJ: Compare the number of fractures, seen on the X-ray to the prenatal finding of several normal long bones. Many of these fractures are not detectable on the ultrasound images, look at the humerus)

Images 1,2: 35 weeks; Image 1 shows an axial view of the fetal head. Image 2 shows humerus
measuring 25 weeks.

Images 3,4: Image 3 shows fibula and tibia
measuring 22 weeks. Image 4 shows radius, measuring 24 weeks.

Images 5,6: Images of the right femur with an apparent fracture.


Images 7,8:
Image 7 shows ulna. Image 8 shows a transverse view of the abdomen.

Images 9,10: Image 9 shows 3D-image of the fetal face. Image 10 shows 3D-image of the spine.

Images 11,12: X-ray images; Image 11 shows a slight hypomineralization of the fetal skull. Image 12 shows multiple fractures of the upper extremities.

Image 13: Fracture of the lower extremities which cause curving of femur and tibia.

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