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Articles » Skeletal » Chondrodysplasia punctata

2005-10-06-14 Chondrodysplasia punctata © Quintero

Chondrodysplasia punctata

Juan Carlos Quintero, MD 

Centro Medico Imbanaco Universidad del Valle, Cali, Colombia

This is a case of a 30-year-old-woman  G1 with a ultrasound scan at 33 weeks that revealed multiple anomalies including:

  • long bones that are:
    • short,
    • bowed,
    • asymmetric
    • rhizomelic
    • with fracture in one femur,
    • poor mineralization
  • punctiform calcification
  • flat nose.

 The head shows poor mineralization (note that the proximal hemisphere is visible):

Profile view of the face. The left image demonstrates the binocular distance A flat mid-face is seen (note the small/absent nasal bone).

3-D view showing the flat saddle of the nose:

A normal 4-chamber view  and abdomen:

The left and right humerus. Note the hypomineralization seen as a bone that allows ultrasound to penetrate it:

Ulna, tibia and left femur:

Fibula and right ulna:

The leg:

3-D view of the femur:

View of the hand:

View of the left leg and rocker bottom foot.

View of the right foot between placenta and uterus.

Images from fetal spine:


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