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Articles » Skeletal » Osteogenesis Imperfecta » Osteogenesis imperfecta type II
2010-10-06-13 Osteogenesis imperfecta, type II © Leinart
Osteogenesis imperfecta, type II

Eva Leinart, MD, PhD,  Elizabeth Newman, RDMS, Pamela Rhodes, RDMS, Ana Bircher, MD, Philippe Jeanty, MD, PhD.

Inner Vision Women's Ultrasound, Nashville, Tennessee, USA.

Case report

A 27-year-old G1 P0 was referred to our ultrasound center at 23 weeks of gestation for the suspicion of the skeletal dysplasia. Both parents had negative personal or family history. Pregnancy was uncomplicated.

Ultrasound scan at 23 weeks showed shortening of all the long bones below the 5th percentile. Both femurs and tibia, fibula very markedly shortened and bowed. Chest seemed slightly smaller with shortened ribs.

Subsequent ultrasound at 27 weeks of gestation showed marked shortening of all the long bones. Femur bones were bowed and lagging 4 weeks in growth.

Ultrasound examination at 30 weeks confirmed the previous findings, femur bones were asymmetric with possible fractures. Both humerus bones were shortened and bowed but not as markedly as femurs. Tibias were difficult to visualize due to hyperflexion of both legs.

Ultrasound at 35 weeks showed increased amount of the amniotic fluid. Fetal chest was small with the heart occupying more than 50% of the thoracic cavity which was worrisome for respiratory difficulties at birth. There was bilateral hydrocele. Femur and humerus bones were bowed with possible fractures.

Our differential diagnosis included campomelic dysplasia or some type of osteogenesis imperfecta, possible type II or III.

Patient delivered via cesarean section at term. The clinical examination of the neonate and postnatal X-rays confirmed a diagnosis of Osteogenesis imperfecta type II. There were multiple fractures of femur and humerus bones, lack of mineralization of the calvarium.

Images 1,2
: 23 weeks, axial view of the fetal head, 3D image of the fetal face.

Images 3,4
: Lower extremities, markedly bowed femur bones and tibia.

Images 5,6,7: Image 5 shows bowed tibia. Image 6 showed shortened and slightly bowed humerus.


Images 8,9: 26 weeks, left and right femur bones.

Images 10,11: Image 10 shows humerus. Image 11shows transverse view of the thorax, note the shape of the ribs and thoracic cavity.

Images 12,13: 30 weeks, bowed femur bones with multiple fractures.

Images 14,15
: 34 weeks, image 14 shows axial view of the fetal head. Image 15 shows 2D and 3D image of the forearm, note the abnormal angulation .

Images 16,17: Image 16 shows deformed femur with fractures. Image 17 shows transverse view of the thorax which has decreased circumference, heart is occupying more than 50% of the thoracic cavity.

Images 18,19: Image 18 shows bilateral varicocele. Image 19 shows 3D and 2D image of spina of normal appearance.

Images 20,21: Images showing growth charts with femur length and humerus length. Both femur and humerus are far below 5th percentile. Estimated fetal weight, biparietal diameter were within the normal range.

Images 22,23: Postnatal X-rays of the upper and lower extremities, note multiple fractures.

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