Perinatology Unit, Carabobo University, Valencia - Venezuela

A 24-year-old G3 P01 patient (one cesarean section, one miscarriage) was scanned at 25 weeks of pregnancy for a routine examination.

The findings included:

1. Large, bowed bones mostly at the level of the tibias with very small fibulas.
2. Hypertelorism, micrognathia
3. Narrow thorax
4. Feet and hands deformities: toes separation with hypoplastic large toe on one side and missing on the other.
5. Platyspondyly.

The fetus after delivery. The following observations can be confirmed:

Face:

1. micrognathia, and low set ears,

Skeleton:

1. narrow chest,
2. camptodactyly,
3. bulbous fingertips,
4. hypoplastic thumbs and great toes,
5. femoral and tibial bowing,
6. fibular hypoplasia/aplasia,
7. prominent calcanei,
8. bowing and/or hypoplasia of those tubular bones

Others:

1. cryptorchidism.