| Literature DB >> 7363499 |
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.Entities:
Mesh:
Year: 1980 PMID: 7363499 DOI: 10.1111/j.1399-0004.1980.tb00122.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438