Literature DB >> 9644967

[Ellis-van Creveld syndrome: an easy early diagnosis?].

M M Alcalde1, J A Castillo, P García Urruticoechea, R Vilaplana, E Molina, J Ortega.   

Abstract

Ellis-Van Creveld syndrome is a rare chondroectodermal dysplasia. Congenital heart disease is present in more than one-half of cases. The majority are partial atrioventricular septal defects and affect the atrial septum. Although isolated cases of the syndrome are uncommon, an early diagnosis is made in most of the patients because of their cardinal manifestations. The cases of two gypsy brothers with Ellis-Van Creveld syndrome and congenital heart disease (ostium primum atrial septal defect and single atrium), diagnosed during adulthood, are presented.

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Year:  1998        PMID: 9644967

Source DB:  PubMed          Journal:  Rev Esp Cardiol        ISSN: 0300-8932            Impact factor:   4.753


  2 in total

1.  Corrected ASD: case closed?

Authors:  Luis V Paiva; Rui Providencia; Joaquim Sá; R Bastiaenen; Ana Botelho; Paula Mota; Antonio Leitao-Marques
Journal:  BMJ Case Rep       Date:  2011-08-04

2.  Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome.

Authors:  Dennis S Weiner; David Jonah; Bonnie Leighley; Martin S Dicintio; D Holmes Morton; Steven Kopits
Journal:  J Child Orthop       Date:  2013-11-08       Impact factor: 1.548

  2 in total

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