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

作者信息

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

机构信息

Servicio de Cardiología, Hospital Santa María del Rosell, Cartagena, Murcia.

出版信息

Rev Esp Cardiol. 1998 May;51(5):407-9.

PMID:9644967
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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