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2002-02-09-12 Answer to the case of the week #67 © Sosa http://www.thefetus.net/

Answer to case #67

February 8-21, 2002

Alberto Sosa Olavarr?a, MD, PhD. Luis D?az Guerrero, MD, Reigosa Yanis, MD


Perinatology Unit, Carabobo University, Valencia – Venezuela

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

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