Literature DB >> 8362908

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.

A Richieri-Costa1, M A Bortolozo, J R Lauris, R C Lauris, M L Guion-Almeida, D Marques, D Moreti.   

Abstract

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

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Year:  1993        PMID: 8362908     DOI: 10.1002/ajmg.1320460611

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Authors:  Ying Chen; Luo Guo; Chen-Long Li; Jing Shan; Hai-Song Xu; Jie-Ying Li; Shan Sun; Shao-Juan Hao; Lei Jin; Gang Chai; Tian-Yu Zhang
Journal:  Mol Genet Genomics       Date:  2017-12-11       Impact factor: 3.291

2.  Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Authors:  David A Stevenson; Steven B Bleyl; Teresa Maxwell; Arthur R Brothman; Sarah T South
Journal:  Am J Med Genet A       Date:  2007-05-15       Impact factor: 2.802

3.  Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.

Authors:  Shaojuan Hao; Lei Jin; Huijun Wang; Chenlong Li; Fengyun Zheng; Duan Ma; Tianyu Zhang
Journal:  J Craniofac Surg       Date:  2016-09       Impact factor: 1.046

  3 in total

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