Figures & data
Figure 1. Instrumental examination at the first pregnancy. Ultrasounds at 21 weeks (A, B) show severe, generalized micromelia. X-rays after abortion (C, D) show rhizo-mesomelic micromelia with reduced mineralization of the long bones and spurred metaphyses, short ribs, and platyspondyly.
Figure 2. 21 weeks fetus from the first pregnancy of the couple. The fetus, female, presented with hypertelorism, low-set ears, long philtrum, narrow thorax, severely shortened upper and lower limbs, short and stubby fingers, and a single palmar crease on the left.
Figure 3. Instrumental examination at the second pregnancy. Ultrasounds at 12 + 1 weeks (A, B, C, D) show: mesomelic and rhizomelic shortening of both upper and lower limbs; redundant subcutaneous tissue of the limbs; small hands without polydactyly. X-rays after abortion (E, F) show shortened, but not bowed, long bones of the limbs, short ribs, absence of the 12th pair of ribs, small vertebral bodies with platyspondyly, reduced mineralization of the cervical vertebral bodies.
Figure 4. 14 weeks fetus from the second pregnancy of the couple. The fetus, female, presented with facial edema, long neck, low-set and small ears, micrognathia, narrow thorax, mesomelic and rhizomelic shortening of the limbs.
