title: The spectrum of frontonasal dysplasia in an inbred pedigree.
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.
mesh_terms: D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D012535:Scalp / Q000002:abnormalities; D013577:Syndrome