title: Ellis-van Creveld syndrome: its history.
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.
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY 10065, USA. oliver.muensterer@att.net
authors.forename: Oliver J
authors.initials: OJ
authors.lastname: Muensterer
authors.forename: Walter
authors.initials: W
authors.lastname: Berdon
authors.forename: Chris
authors.initials: C
authors.lastname: McManus
authors.forename: Alan
authors.initials: A
authors.lastname: Oestreich
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.forename: M Michael
authors.initials: MM
authors.lastname: Cohen
authors.forename: Stephen
authors.initials: S
authors.lastname: Done
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000266:history*; D005060:Europe; D049673:History, 20th Century; D049674:History, 21st Century; D010372:Pediatrics / Q000266:history*; D011871:Radiology / Q000266:history*; D014481:United States