We present the case of a 28-year-old woman, gravida1 para 0, who was referred at 22 weeks of gestation(WG) to our center to explore abnormalities revealedby second-trimester routine ultrasound examination. Thepatient’s medical and obstetrical history was unremark-able. The couple was not consanguineous. The firstscreening ultrasound scan, at 13 weeks, showed a 70-mm crown-rump length and a 2.4-mm nuchal translu-cency thickness. The levels for serum markers for Downsyndrome at 15 weeks were normal, and she was atlow risk for chromosomal abnormalities. The second-trimester ultrasound revealed a polymalformative syn-drome. The fetus was characterized, in two-dimensional(2D) and 3D ultrasound scan, by rhizomelic limb short-ness, with a single leg bone, strain spine, macrocra-nium, flattened temporal bones, retrognatism, unusualface with hypoplastic nose and widely spaced eyes,broad hands and digits, and club feet. The study ofthorax and abdomen was considered normal. Three-dimensional helical computed tomography was per-formed at 24 weeks to improve accuracy of the prenataldiagnosis of this skeletal dysplasia. It revealed a dou-ble curve configuration of the cervical spine, shorts ribs,vertebral hypoplasia with platyspondyly, thoraco-lumbarcoronal clefting and hypoplastic iliac wings with verticalblock-like ischia (Figure 1). The face was flattened andnarrow, associated with hypoplastic maxillary and thinmedian cleft palate, hypoplastic mandible, and pointedchin. The femurs were short, curved, and proximallyflared, the tibiae were slightly dumbbell-shaped andbowed, and the fibulae were absent. The humeri weremarkedly short with rounding and flaring of the proximal