Literature DB >> 15915110

Concordant contralateral lambdoidal synostosis in dizygotic twins.

Gary F Rogers1, Paul D Edwards, Carolyn D Robson, John B Mulliken.   

Abstract

Twin studies have been widely used to investigate genetic versus environmental causality of malformations. While there are numerous reports of concordant sutural fusions in syndromic twins, there are few cases in siblings with nonsyndromic single suture synostosis. Lambdoidal synostosis has no clear genetic etiology. Discordant synostosis has been reported in one monozygotic twin; there is also an unsubstantiated report of concordance in dizygotic twins. We describe dizygotic twins concordant for contralateral lambdoidal synostosis. Mutational analysis for FGFR 1,2,3 was negative. Given the low incidence, absence of reported inheritability, and lack of documented concordance in monozygotic twins, the pathogenesis of isolated lambdoidal fusion can only be ascribed to stochastic influences.

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Year:  2005        PMID: 15915110     DOI: 10.1097/01.scs.0000147385.76122.7c

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


  2 in total

Review 1.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Authors:  Wanda Lattanzi; Nenad Bukvic; Marta Barba; Gianpiero Tamburrini; Camilla Bernardini; Fabrizio Michetti; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

2.  Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder.

Authors:  Caroline C Watson; Christoph J Griessenauer; R Shane Tubbs; James M Johnston
Journal:  Childs Nerv Syst       Date:  2013-11-06       Impact factor: 1.475

  2 in total

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