Congenital Heart Disease in an Adult with the Ellis-van Creveld Syndrome
Authors: F. EUGENE TUBBS
Journal: Annals of Internal Medicine (1962)

Case Studies1 November 1962Congenital Heart Disease in an Adult with the Ellis-van Creveld SyndromeF. EUGENE TUBBS, M.D., LAMAR CREVASSE, M.D., J. RUSSELL GREEN JR., M.D.F. EUGENE TUBBS, M.D.Search for more papers by this author, LAMAR CREVASSE, M.D.Search for more papers by this author, J. RUSSELL GREEN JR., M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-57-5-829 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptMcIntosh (1) in 1933 described a patient who presented with ectodermal dysplasia, polydactyly, and chondrodysplasia. In 1940 Ellis and van Creveld (2) described 2 more patients with similar congenital anomalies who, in addition, had congenital heart disease. In this report they mentioned the original case described by McIntosh. Since then, some 34 cases have been described. We believe that the present report represents the thirty-fifth case of this syndrome to be reported and the first to be noted initially in an adult.In an excellent review of the literature, Nabrady (3), following the classification according to Chauss (4), separated chrondroectodermal...References1. MCINTOSH R: Diseases of Infancy and Childhood, 10th Ed., ed. by Holt, L. E., and Howland, J., D. Appleton-Century Company, New York, 1933, p. 362. Google Scholar2. ELLISVAN CREVELD RWS: A syndrome characterized by ectodermal dysplasia, Polydactyly, chondro-dysplasia and congenital morbus cordis: report of 3 cases. Arch. Dis. Child. 15: 65, 1940. CrossrefMedlineGoogle Scholar3. NABRADY J: Ellis-van Creveld syndrome and neuroectodermal injury. Ann. Paediat. (Basel) 196: 18, 1961. MedlineGoogle Scholar4. CHAUSS JM: Chondroectodermal dysplasia (Ellis-van Creveld syndrome); a case report. Radiology 65: 213, 1955. CrossrefMedlineGoogle Scholar5. CAFFEY J: Chondro-ectodermal dysplasia (Ellisvan Creveld disease): report of 3 cases. Amer. J. Roentgenol. 68: 875, 1952. Google Scholar6. HUSSONPARKMAN GSP: Chondro-ectodermal dysplasia (Ellis-van Creveld syndrome) with a complex cardiac malformation. Pediatrics 28: 385, 1961. Google Scholar7. METRAKOSFRASER JDFC: Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). Amer. J. Hum. Genet. 6: 260, 1954. MedlineGoogle Scholar8. MITCHELLWADDELL FNWW: Ellis-van Creveld syndrome: report of 2 cases in siblings. Acta Paediat. 47: 142, 1958. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Gainesville, FloridaRequests for reprints should be addressed to Lamar Crevasse, M.D., Department of Medicine, The J. Hillis Miller Health Center, University of Florida, Gainesville, Florida. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByChoroidal Coloboma in a Case of Tay-Sachs DiseaseOrthopaedic manifestations of chondroectodermal dysplasia: the Ellis–van Creveld syndromeEllis-van Creveld SyndromeA new gene, EVC2, is mutated in Ellis–van Creveld syndromeTwo cases of Ellis-van Creveld syndrome in a small island population.Angeborene Herzfehler beim Ellis-van Creveld-SyndromDifficulties in Differentiation between Chondroectodermal Dysplasia (Ellis–van Creveld syndrome) and Asphyxiating Thoracic DystrophyGenetics of Atrial Septal DefectEllis-van Creveld SyndromeHereditary disorders of connective tissueMedical genetics 1962 1 November 1962Volume 57, Issue 5Page: 829-834KeywordsCongenital disordersCongenital heart diseaseDysplasiaHypertensionLesions Issue Published: 1 November 1962 PDF DownloadLoading ...