A 38-year old primigravida was referred to the ultrasound department at 22 weeks of gestational age because of “abnormal lower limbs”. Her past medical history was unremarkable. She underwent twice a diagnostic laparascopy. The pregnancy was conceived after in vitro fertilization. Karyotyping for advanced maternal age was performed by amniocentesis and demonstrated a normal male karyotype (46 XY with G-banding).

The first set of images demonstrates the right leg. The femur is not only too short but also bend. Note also the abnormal proximal hip joint.

The second set of images represents views of the left leg. Similar findings of the femur are present.

The face demonstrated micrognathia:

There is also a  2 MB videoclip.

The findings are bilateral short femurs and endorotation of both  feet. There is also discrete facial dysmorphism with micrognathia and flat forehead. Using femoral hypoplasia as a key word in OMIM provides 38 entries. If we add micrognathia into the search, 5 entries are found. Of these there is only one syndrome with the paucity of charasteristic symptoms of short femur and micrognathia with a few other facial features i.e. Femoral-Facial syndrome or Femoral Hypoplasia Unusual Facies syndrome.