The spectrum of frontonasal dysplasia in an inbred pedigree

Clin Genet. 1980 Feb;17(2):137-42. doi: 10.1111/j.1399-0004.1980.tb00122.x.

Abstract

An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals were products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the coefficient of inbreeding was 0.0742. The mother of the propositus, whose inbreeding coefficient was 0.0625, had borderline hypertelorism and a broad nose. Several other members of the pedigree who had hypertelorism were products of consanguineous matings. The presence of consanguinity in all individuals affected with a variety of manifestations of FND suggests a genetic mechanism for this malformation.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity*
  • Craniofacial Dysostosis / genetics*
  • Face / abnormalities*
  • Female
  • Humans
  • Hypertelorism / genetics
  • Infant, Newborn
  • Male
  • Nose / abnormalities*
  • Pedigree
  • Scalp / abnormalities
  • Syndrome