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:

case0067-2

an abnormally short tibia

case0067-3

and the unusual position of the sacrum

case0067-1

The fetus after delivery:

 

case0067-4
case0067-5

and the X-rays

case0067-6
case0067-7
case0067-8

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).

case0067-2

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

case0067-3

and the unusual position of the sacrum which is almost horizontal.

case0067-1

The fetus after delivery. The triangular tibia, the mid face hypoplasia and the distal limb defects

 

case0067-4
case0067-5

and the X-rays demonstrates the platyspondyly.

case0067-6
case0067-7
case0067-8

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

case0067-9

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

Menu