Síndrome de Ellis Van Creveld (displasia condroectodérmica): reporte de un caso
DOI:
https://doi.org/10.17533/udea.rfo.24003Keywords:
Síndrome de Ellis Van Creveld, Displasia condroectodérmicaAbstract
Aproximadamente el 1% de los recién nacidos, presenta anormalidades múltiples, de la cuales el 40% pueden ser diagnosticadas como síndromes específicos y el 60% restante, como entidades hasta el momento desconocidas.
Aunque el síndrome fue descrito en parte por varios autores, antes de la publicación clásica de Ellis y Van Creveld en 1940, se atribuye a estos últimos autores la descripción de la denominación "displasia condroectodérmica".
El síndrome maniefiesta una herencia recesiva autosómica con consanguinidad de los progenitores en el 30% de los casos aproximadamente.
Esta afección es el tipo más común de enanismo entre los amish, donde se hallaron 52 casos (distribuidos en 30 hermanos).
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