Article

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

Servicio de Cardiología, Hospital Santa María del Rosell, Cartagena, Murcia.
Revista Espa de Cardiologia (impact factor: 2.53). 06/1998; 51(5):407-9. pp.407-9
Source: PubMed

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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Keywords

atrial septum
 
cases
 
congenital heart disease
 
Ellis-Van Creveld syndrome
 
gypsy brothers
 
one-half
 
ostium primum atrial septal
 
rare chondroectodermal dysplasia
 
single atrium
 

M M Alcalde