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Journal Information

Online ISSN
1305-3124

Established
1993

Editors-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

Statistics Editor
Resul Arısoy

Article info

Ellis-Van Creveld syndrome. Perinatal Journal 2014;22(3):SE26 DOI: 10.2399/prn.14.S001084

Author(s) Information

Kaan Pakay1,
Resul Arısoy1,
Emre Erdoğdu1,
Oya Demirci1,
Oya Pekin1,
Hicran Acar1,
Hatip Aydın2,
Murat Muhçu1

  1. Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Perinatoloji Kliniği- İstanbul TR
  2. Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Çocuk Genetiği Kliniği- İstanbul TR
Correspondence

Kaan Pakay, Zeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Hastenesi, Perinatoloji Kliniği- İstanbul TR,

Publication History
Conflicts of Interest

No conflicts declared.

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