Prenatal diagnosis of Ellis-van Creveld syndrome: case report and literature review
DOI:
https://doi.org/10.18597/rcog.213Keywords:
Ellis-van Creveld, ectodermal chondrodysplasia, cardiac malformation, polydactylyAbstract
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.
Author Biographies
Tamara Estrada T
Jorge Hernán Montoya V
Hernán Cortés-Yepes
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