Dandy-Walker malformation in Ellis-van Creveld syndrome

K. M. Zangwill, D. K.B. Boal, Roger Ladda

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature sugests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded.

Original languageEnglish (US)
Pages (from-to)123-129
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume31
Issue number1
DOIs
StatePublished - Jan 1 1988

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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