Ellis-van Creveld syndrome: Its history

Oliver J. Muensterer; Walter Berdon; Chris McManus; Alan Oestreich; Ralph S. Lachman; M. Michael Cohen; Stephen Done

doi:10.1007/s00247-013-2709-y

Ellis-van Creveld syndrome: Its history

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

Medicine

Medicine

Research output: Contribution to journal › Review article › peer-review

14 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1030-1036
Number of pages	7
Journal	Pediatric Radiology
Volume	43
Issue number	8
DOIs	https://doi.org/10.1007/s00247-013-2709-y
Publication status	Published - Aug 2013

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Radiology Nuclear Medicine and imaging

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10.1007/s00247-013-2709-y

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AU - Muensterer, Oliver J.

AU - Berdon, Walter

AU - McManus, Chris

AU - Oestreich, Alan

AU - Lachman, Ralph S.

AU - Cohen, M. Michael

AU - Done, Stephen

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Ellis-van Creveld syndrome: Its history

Abstract

ASJC Scopus Subject Areas

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