Resumo

ESTRADA T, Tamara; MONTOYA V, Jorge Hernán  e  CORTES-YEPES, Hernán. Prenatal diagnosis of Ellis-van Creveld syndrome: case report and literature review. Rev Colomb Obstet Ginecol [online]. 2011, vol.62, n.3, pp.250-254. ISSN 0034-7434.

Introduction: Ellis van Creveld (EVC) syndrome is a rare genetic disorder which is characterized by a person having short limbs, polydactylia and heart defects; it can be detected prenatally by ultrasound. A case is presented here so that its characteristics, possible differential diagnoses and prognosis can be discussed. Materials and methods: this article presents a case of prenatal diagnosis of EVC by ultrasound which was confirmed shortly after birth. A bibliographic search was made of the Medline via PubMed database; 15 of the 579 articles which were found were reviewed due to their pertinence and topicality. Conclusions: EVC syndrome is a condition which is susceptible to prenatal diagnosis. It should be suspected in cases of mesomelia, polydactyly and cardiac defects. Prognosis mainly depends on the type of cardiac malformation.

Palavras-chave : Ellis-van Creveld; ectodermal chondrodysplasia; cardiac malformation; polydactyly.

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