Case Report

The patient is a 42-year-old woman(G6P4), (100 kg, 150 cm) with poorly controlled type II diabetes (HbA1c: 9). She had not been treated with insulin until the 32nd week.

The first fetal ultrasound was done at 13 weeks (nuchal translucency = 1 mm). The triple test was not performed. Amniocentesis revealed 46 XY karyotype.

A second ultrasound was done at 22 weeks with femur length at the 5th percentile.

At the end of 32 weeks, bilateral femoral hypoplasia was seen with femoral bowing. The examination was technically difficult, but we observed theses anomalies:

• Bilateral femoral hypoplasia < 3th percentile (image 1,2)

Image 1,2:

• Tibia and fibula = 5th percentile (Image 3)

Image 3:

• Poor visualization of the spine
• Bilateral club feet
• Allantoic cyst of the umbilical cord (Image 4)

• The bones of the upper limbs were normal in length
• The facial profile seemed normal appearance
• The anus appeared to be present
   

A spiral CT was performed at 32 weeks. We confirmed bilateral femoral hypoplasia with short tibias and fibulae, dislocation of the upper end of the femur, bilateral club foot , partial agenesis sacral vertebral bodies (Image 5-9).

Image 5-9: 

Because of the  poorly controlled  diabetes and bilateral femoral hypoplasia with dislocated hips suggested a teratologic etiology, we suspected bilateral femoral hypoplasia. The femoral-facial syndrome was considered unlikely because of the normal facial profile.

The patient met the pediatric surgeon and continued the pregnancy. The child was born at 37 weeks (third cesarean section). Bone abnormalities were confirmed (Image 10,11).

Our final diagnosis was Stade B bilateral femoral hypoplasia due to maternal diabetes.

Image 10,11: