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  • Title: [Ellis van Creveld syndrome].
    Author: Salvador Amores AM, Grande Baos C, Blanco Caneda ML, Alonso Ortiz T, Moro Serrano M, Arrabal Terán MC.
    Journal: An Esp Pediatr; 1990 May; 32(5):445-50. PubMed ID: 2400161.
    Abstract:
    The last two cases of Ellis van Creveld syndrome diagnosed in the Neonatology Service of our department are presented and the clinical and radiological features described. One of the children, the boy, was suffering from ocular malformations which are not common in this syndrome. Both have heart malformations which are frequent in this syndrome. Paradoxically the boy, who was quite below the third percentile in height, has less alterations in the long bones than did the baby girl, who was within the normal height range. Attention is called to the lack of adipose panniculus in the boy, but the girl's weight is within the normal limits. Both died because of the heart anomalities with accompanying respiratory distress.
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