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01-08-2013 | Historical Perspective

Ellis–van Creveld syndrome: its history

Authors: Oliver J. Muensterer, Walter Berdon, Chris McManus, Alan Oestreich, Ralph S. Lachman, M. Michael Cohen Jr., Stephen Done

Published in: Pediatric Radiology | Issue 8/2013

Abstract

The story of Ellis–van Creveld syndrome is one of serendipity. By chance, Simon van Creveld and Richard Ellis purportedly met on a train and combined their independently encountered patients with short stature, dental anomalies and polydactyly into one landmark publication in 1940. They included a patient used in work published previously by Rustin McIntosh without naming McIntosh as a coauthor. This patient was followed radiologically by Caffey for nearly two decades. In 1964, Victor McKusick felt compelled to investigate a brief report in an obscure pharmaceutical journal on an unusual geographic cluster of short-statured Amish patients in Pennsylvania. This review highlights the lives of the individuals involved in the discovery of Ellis–van Creveld syndrome in their historic context.

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Title: Ellis–van Creveld syndrome: its history
Authors: Oliver J. Muensterer
Walter Berdon
Chris McManus
Alan Oestreich
Ralph S. Lachman
M. Michael Cohen Jr.
Stephen Done
Publication date: 01-08-2013
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Radiology / Issue 8/2013
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-013-2709-y

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Ellis–van Creveld syndrome: its history

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