Achondroplasia in sibs of normal parents

J Med Genet. 1988 Dec;25(12):857-9. doi: 10.1136/jmg.25.12.857.

Abstract

A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.

Publication types

  • Case Reports

MeSH terms

  • Achondroplasia / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Pedigree