2005-10-06-14 Chondrodysplasia punctata © Quintero www.thefetus.net/
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:
