Case of the Week # 67 Alberto Sosa Olavarría, MD, PhD. Luis Díaz Guerrero, MD, Reigosa Yanis, MD February 8-21, 2002 Perinatology Unit, Carabobo University, Valencia – Venezuela The patient is scanned at 17 weeks and the examination demonstrates this foot: an abnormally short tibia and the unusual position of the sacrum The fetus after delivery: and the X-rays What is (are) the finding(s) and diagnosis ? View the Answer Hide the Answer Answer The patient is scanned at 17 weeks and the examination demonstrates this clubbed foot: connected to a very mesomelic limb (short tibia fibula). an abnormally short tibia that has an unusual triangular shape. The tibia is the short triangular structure between the leg and the foot on the image below and the unusual position of the sacrum which is almost horizontal. The fetus after delivery. The triangular tibia, the mid face hypoplasia and the distal limb defects and the X-rays demonstrates the platyspondyly. Findings: midface hypoplasia micrognathia flattened nasal bridge small thorax platyspondyly horizontal sacrum micromelia triangular fibula and ulna talipes equinovarus. At histopathology, lacunar halos are present around chondrocytes The diagnosis was a mesomelic dysplasia but could not be established prenatally but was established from the X-ray and pathology exam. The final diagnosis was: Neonatal Osseous Dysplasia also called Atelosteogenesis type II Discussion Board Start a discussion about this case Add to Favorites Favorite