Premium
The spectrum of frontonasal dysplasia in an inbred pedigree
Author(s) -
Fuenmayor H. Moreno
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00122.x
Subject(s) - inbreeding , consanguinity , hypertelorism , genetics , biology , medicine , population , environmental health
An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals werz 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.