Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian c...

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Bibliographic Details
Published in:International journal of pediatrics & adolescent medicine 2015-09, Vol.2 (3-4), p.161-165
Main Authors: Ajmi, Houda, Ruiz Perez, Victor L., Hassayoun, Saida, Mabrouk, Sameh, Mahdoui, Sana, Boughzela, Essia, Zouari, Noura, Abroug, Saoussan
Format: Article
Language:English
Subjects:
Case Report
Chondro-ectodermal dysplasia
Ellis-van Creveld syndrome
Partial atrioventricular canal defect
Polydactyly
Pulmonary arterial hypertension
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Summary:Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; however, the evolution was fatal.
ISSN:2352-6467
2352-6467
DOI:10.1016/j.ijpam.2015.08.004