The spectrum of frontonasal dysplasia in an inbred pedigree |
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Authors: | H Moreno Fuenmayor |
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Institution: | Unidad de Genetica Medica, Universidad del Zulia, Maracaibo, Venezuela |
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Abstract: | 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. |
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Keywords: | Bifid nose consanguinity facial morphogenesis frontonasal dysplasia genetic liability hypertelorism inbreeding multifactorial inheritance polygenic inheritance |
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