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2005-03-08-12 Answer to Case of the week #139 © Jeanty www.TheFetus.net
Answer to Case of the week #139

March 10 - March 24, 2005

Philippe Jeanty, MD, PhD
Tennessee Women"s Care, Nashville TN

This is a woman who presented for a second trimester ultrasound scan:

Ultrasound images of cervical spine:

Ultrasound images of the upper extremity:

Ultrasound images of the lower extremity:

Fetal biometry:

This fetus demonstrated the following features:

1. Lower limb skeletal abnormalities - bilateral shortening of the femur, tibia and fibula was noted. These bones aslo show bowing. The feet demonstrated clubbing.
2. Upper limb skeletal abnormalities -  The upper extremities also demonstrate some shortening (all long bones are about 2 weeks shorter then the age derived from the biparietal diameter). The upper extremities do not demonstrate bowing.
3. Chest - The chest is narrow but not severely narrow.
4. Cervical spine - There is some deformity of the lower cervical spine giving the baby an appearance of opisthotonos (although flexion can be seen).
5. The head, abdomen and all the other structures were normal.

Based on the above findings, a diagnosis of Camptomelic dysplasia was made. This was confirmed postnatally by radiographs:


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