Literature DB >> 7363499

The spectrum of frontonasal dysplasia in an inbred pedigree.

H Moreno Fuenmayor.   

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.

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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


  3 in total

1.  Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.

Authors:  Leslie A Lyons; Carolyn A Erdman; Robert A Grahn; Michael J Hamilton; Michael J Carter; Christopher R Helps; Hasan Alhaddad; Barbara Gandolfi
Journal:  Dev Biol       Date:  2015-12-02       Impact factor: 3.582

2.  Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.

Authors:  Ben Fogelgren; Mari C Kuroyama; Brandeis McBratney-Owen; Allyson A Spence; Laura E Malahn; Mireille K Anawati; Chantelle Cabatbat; Vernadeth B Alarcon; Yusuke Marikawa; Scott Lozanoff
Journal:  Dev Dyn       Date:  2008-07       Impact factor: 3.780

3.  Frontonasal dysplasia as an expression of holoprosencephaly.

Authors:  M Roubicek; J Spranger; S Wende
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

  3 in total

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