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):

HEAD

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

DOE
PROFILE

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

FACE

A normal 4-chamber view  and abdomen:

4 CH VIEW
ABDOMEN

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

L HUMERUS
R HUMERUS

Ulna, tibia and left femur:

CUBITO
TIBIA
LEFT FEMUR

Fibula and right ulna:

PERONE
R CUBITO

The leg:

LEG

3-D view of the femur:

RIGHT FEMUR

View of the hand:

HAND

View of the left leg and rocker bottom foot.

FOOT
LEFT LEG AND ROCKERBOTOM FOOT

View of the right foot between placenta and uterus.

RIGHT FOOT BETWEN PLACENTA AND UTERUS

Images from fetal spine:

SPINE
SPINE 2

 

Start a discussion about this article

Add bookmark Bookmarked

Menu