Perinatology Unit, Carabobo University, Valencia — Venezuela
Synonyms:
Femoral hypoplasia - unusual facies syndrome
Definition:
Bilateral femoral dysgenesis-unusual facies syndrome is a disorder consisting of hypoplasia or absence of the femurs bilaterally and distinguishing facial characterizes of a short nose with broad tip, elongated philtrum, thin upper lip and micrognathia.
Prevalence:
Unknown but rare.
History:
Franz and O'Rahilly reported the first case in 1961, but it was not recognized as a distinct entity until 1975 when Daentl et al. reported their cases.
Case report:
Ultrasound study at 17 weeks: short femur. The second ultrasound evaluation at 19 weeks 3 days revealed: Fetal face: prominent orbits, flat profile, micrognathia and absent nasal bones.