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2010-12-30-14 Campomelic dysplasia © Asali www.TheFetus.net
Campomelic dysplasia

Othman A. R. M. Al-Asali, MD.*, Abeer Suliman, MD.*, Manal Al-hakeem, MD.**

* Department of Obstetrics and Gynecology, Al-Hammadi Hospital, Riyadh, Saudi Arabia.
** Department of Radiology,
Al-Hammadi Hospital, Riyadh, Saudi Arabia.

Case report

This is a case of  a 33-year-old G5 P4 with non-contributive family or personal history who was referred to our department at 22 weeks of gestation. The father of the baby was a first degree consanquineous. The previous pregnancies were uncomplicated and all the children were healthy.

The ultrasound examination showed shortening of the long bones, below the 5th percentile. The bones were also bowed, especially both femurs and tibias. There was an increased amount of the amniotic fluid. The cervical spine showed an abnormal curvature, hyperlordosis. Both feet and hands seemed abnormally positioned. Our diagnosis based on the ultrasound examination was campomelic dysplasia.

Patient delivered via cesarean section at 42 weeks of gestation. The neonate died a few hours after delivery due to a severe respiratory distress. Our diagnosis of campomelic dysplasia was confirmed after delivery. The cause of death was probably a respiratory failure due to abnormalities of the bronchial and tracheal cartilage, so called tracheobronchomalacia.

Images 1,2: 22 weeks, image 1 shows femur, image 2 shows tibia, fibula and foot. Femur measured 3 weeks less than BPD.

 

Images 3,4: Image 3 shows bowed long bones. Image 4 shows cervical spine with prominent lordosis.

 

Images 5,6: Image 5 shows clubfoot. Image 6 shows upper extremities with shortened and bowed long bones.



Images 7,8: Image 7 shows cervical hyperlordosis. Image 8 shows small chest and prominent abdomen.



Images 9,10: Image 9 shows the axial view of the head with BPD (biparietal diameter). Image 10 shows a bowed femur, FL lags 7 weeks behind BPD.



Image 11,12
: Image 11 shows the increased amount of the amniotic fluid. Image 12 shows a mild pyelectasis.



Images 13: Image 13 shows bowed, shortened lower extremity with clubfoot and foot hyperextension, arrow indicates the typical skin dimple.

 

Images 14,15: 3D-images, image 15 shows profile with the low set ears and depressed nasal bridge.



Images 16,17: Image 16 shows the skin dimples. Image 17 shows shortened, bowed extremities, note short, small chest.



Images 18,19: X-rays, image 18 shows prominent occiput and cervical hyperlordosis. Image 19 shows small, barrel-shaped chest, short upper extremities.


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