Craniosynostosis in the Amish

Harold E. Cross, John M. Opitz

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Eleven related persons with craniosynostosis are reported. Six of these cases occurred in four Ohio Amish sibships and were clinically indistinguishable from "nonspecific craniosynostosis," which is not usually associated with other malformations. Despite some clinical variability, the genetic data seem to support the hypothesis that the condition in all six cases is due to homozygosity of the same recessive gene. Five cases occurred in a Wisconsin branch of the same Amish kindred and appear to represent typical Crouzon's disease. Formal genetic analysis is unable to discriminate between direct transmission of a dominant gene and pseudodominant recessive inheritance as cause of the condition in this family. Dominant inheritance appears more likely, but this kindred also suggests the possible existence of a recessively inherited form of Crouzon's disease.

Original languageEnglish (US)
Pages (from-to)1037-1044
Number of pages8
JournalThe Journal of Pediatrics
Volume75
Issue number6 PART 1
DOIs
StatePublished - Dec 1969

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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