Ellis-Van Creveld syndrome

Objective 

To present a prenatally diagnosed case of Ellis-Van Creveld (EVC) syndrome and discussion of management for this case.

Case 

A 19 years old gravida 1,para 0 was referred to our unit because of fetus with shortness in all long bones at 21 weeks gestation. Parents had consanguineous marriage. A detailed ultrasound scan revealed a single live fetus with shortness of long bones(<2,5 th) severe thoracic hypoplasia with short ribs, postaxial polydactyly of bileteral hands, and aortic hypoplasia with atrioventricular septal defect.After counseling about the fetus and prognosis, cordosentesis was performed and the pregnancy was terminated. Postmortem examination confirmed as a Ellis-Van Creveld Syndrome. Karyotype analyse was revealed a 46,XX karyotype of the fetus.

Conclusion 

EVC syndrome can be diagnosed by prenatal sonograpy in the second trimester but EVC should be distinguished from thoracic asphyxiating dystrophy (Jeune syndrome) and the group of short-rib polydactyly syndromes.

Keywords

Ellis-Van Creveld syndrome, prenatal diagnosis

	File/Dsecription
	Figure 1 Thoracic hypoplasia with short ribs
	Figure 2 Polydactly
	Figure 3 Shortness in the long bones