Ellis-Van Creveld syndrome. Perinatal Journal 2014;22(3):SE26
- Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Perinatoloji Kliniği- İstanbul TR
- Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Çocuk Genetiği Kliniği- İstanbul TR
Kaan Pakay, Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Perinatoloji Kliniği- İstanbul TR,
Conflicts of Interest
No conflicts declared.
To present a prenatally diagnosed case of Ellis-Van Creveld (EVC) syndrome and discussion of management for this 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.
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.
Ellis-Van Creveld syndrome, prenatal diagnosis