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.