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Case report


Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation

Nischal G KundaragiKishor TaoriRitesh KumawatJawahar RathodAtul E Sawant
Department of Radiodiagnosis, Government Medical College, Nagpur, Maharashtra, India
Date of Submission: 25-Oct-2011, Date of Acceptance: 08-Dec-2011, Date of Web Publication: 24-Dec-2011.
Corresponding Author:
Corresponding Author

Nischal G. Kundaragi

Consultant, Government Medical College, Nagpur and SRM University Medical College, Kanchipurum, Tamil Nadu, India.
E-mail: drngk@yahoo.com

Corresponding Author:
Corresponding Author

Nischal G. Kundaragi

Consultant, Government Medical College, Nagpur and SRM University Medical College, Kanchipurum, Tamil Nadu, India.
E-mail: drngk@yahoo.com

DOI: 10.4103/2156-7514.91132 Facebook Twitter Google Linkedin

ABSTRACT


Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.
Keywords: Antenatal Diagnosis, Cardiac Malformation, Ellis Van Creveld Syndrome, Synpolydactyly, Ultrasonography

Cited in 1 Document

  1. Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Jun-Wei Su and Wayseen Wang First-trimester prenatal diagnosis of Ellis–van Creveld syndrome Taiwanese Journal of Obstetrics and Gynecology 51(4) 2012 643. Doi: 10.1016/j.tjog.2012.10.001

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