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Articles » Syndromes » Ellis-van Creveld syndrome
2008-08-18-09 Ellis-van Creveld syndrome © Asali
Ellis-van Creveld syndrome 

Othman A. R. M. Al-Asali, MD.

Al-Hammadi Hospital, Riyadh, Saudi Arabia.

Case report

A 26-year old patient, G1P0, with a noncontributive history, but from a consanguineus marriage, was seen in our antenatal unit at 24 and 30 weeks of her pregnancy. Our examination revealed several anomalies of the fetus, which raised a suspicion of chondroectodermal dysplasia (Ellis-van Creveld syndrome). The diagnosis was confirmed postnatally. Our findings involved rhizomelia, congenital heart defect (single atrium with a large atrioventricular septal defect), postaxial polydactyly of the hands and feet, and narrow thorax.

At 38 weeks the fetus died in utero probably due to the heart failure or due to cord entanglement around the fetal neck and body. Induction of labor was unsuccessful because of a tightly wound umbilical cord around the fetal body, which prevented the descent of the fetal head into the mother"s pelvis. Cesarean section was done afterwards and the diagnosis was confirmed.

Images 1, 2: The image 1 shows a transverse scan of the fetal head at 24 weeks with brachycephalic configuration (BPD 90 mm, which corresponds to 36w6d of gestational age). The image 2 was taken at 30 weeks of pregnancy and shows the fetal humerus measuring 39.6 mm, which corresponds only to 24w1d of gestational age (rhizomelia).


Images 3, 4: 30 weeks; the image 3 shows the fetal ulna measuring 42.1 mm, which corresponds approximately to 27-28 weeks of pregnancy. The image 4 shows the fetal femur measuring 40.3 mm, corresponding only to 23 weeks of pregnancy (rhizomelia).


Images 5, 6: 30 weeks; the image 5 shows the fetal tibia measuring 40.9 mm, corresponding approximately to 26-27 weeks. The image 6 shows postaxial polydactyly of the fetal hand. 


Images 7, 8: 30 weeks; the images show the narrow thorax of the fetus.


Images 9, 10: 30 weeks; the image 9 shows a transverse scan of the fetal abdomen - no anomaly is seen. The image 10 shows a transverse scan of the fetal thorax at the level of the four-chamber view of the heart. The narrow thorax causes a relative cardiomegaly of the heart. Atrioventricular septal defect was also present.


Image 11: 30 weeks; the image shows 3D image of the fetal gender (male).


Images 12, 13: Postnatal pathological specimens showing the head of the stillborn fetus.


Images 14, 15: Postnatal pathological specimens showing the narrow thorax of the stillborn fetus.


Images 16, 17: Postnatal pathological specimens showing the postaxial polydactyly of the hands and feet.


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