Lethal skeletal dysplasia

A follow-up second-opinion ultrasound reveals a single viable fetus in utero with a cephalic presentation. Fetal cardiac and somatic activities are present with a regular heart rate of 133 bpm. Several in-utero anomalies are identified:

• relative foreshortening of the fetal lower limbs, suggesting camptomelia or phocomelia with an FL/HC ratio = 0.12 (expected normal range = 3 below the mean standard deviation). FL/AC ratio = 0.15 (the expected normal range is between 0.20 and 0.247)

• bilateral flattening and external/lateral rotation of the feet, suggesting bilateral pes planus

• fused and inseparable fetal foot digits (on either side), which are not counted more than five digits on each side, suggesting oligosyndactyly on each foot

• clubbing of the fetal fingers and hands (hippocratic fingers and drumstick fingers), but with separated normal number digits; however, bowing of the right first phalangeal bone (camptomelia)

• hypoplastic right cardiac ventricular chamber with ventricular septal defect suggesting hypoplastic right heart syndrome

• polyhydramnios (single maximal vertical pocket depth = 10.74 cm)

• focal, unilocular, thin-walled anechoic cystic lesion (measuring 2.6 x 2.1 cm in size) visualized within the mid-umbilical cord, suggesting an allantoic/umbilical cord simple cyst

Gross appearance.