[Ellis-van Creveld syndrome: an easy early diagnosis?].
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.
Alcalde
M M
MM
Servicio de Cardiología, Hospital Santa María del Rosell, Cartagena, Murcia.
Castillo
J A
JA
García Urruticoechea
P
P
Vilaplana
R
R
Molina
E
E
Ortega
J
J
D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D004694:Endocardial Cushion Defects / Q000000981:diagnostic imaging; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006325:Heart Atria / Q000002:abnormalities / Q000000981:diagnostic imaging; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography; D014463:Ultrasonography
Síndrome de Ellis-Van Creveld: un fácil diagnóstico precoz?