Literature DB >> 8579653

Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature.

J Cohen1, F Ghezzi, L Gonçalves, J D Fuentes, K J Paulyson, D M Sherer.   

Abstract

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.

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Year:  1995        PMID： 8579653     DOI： 10.1055/s-2007-994511

Source DB:  PubMed          Journal:  Am J Perinatol        ISSN： 0735-1631            Impact factor:   1.862


  10 in total

Review 1.  Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

Authors:  Paul A Trainor
Journal:  Am J Med Genet A       Date:  2010-08-23       Impact factor: 2.802

2.  Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI.

Authors:  Eldad Katorza; Catherine Nahama-Allouche; Vanina Castaigne; Marie Gonzales; Eva Galliani; Sandrine Marlin; Jean-Marie Jouannic; Jonathan Rosenblatt; Hubert Ducou le Pointe; Catherine Garel
Journal:  Pediatr Radiol       Date:  2010-12-08

Review 3.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

4.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 5.  Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.

Authors:  Daisuke Sakai; Paul A Trainor
Journal:  Dev Growth Differ       Date:  2016-08-02       Impact factor: 2.053

Review 6.  Review of the Genetic Basis of Jaw Malformations.

Authors:  Mairaj K Ahmed; Xiaoqian Ye; Peter J Taub
Journal:  J Pediatr Genet       Date:  2016-10-12

Review 7.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

8.  Treacher collins syndrome.

Authors:  Christopher C Chang; Derek M Steinbacher
Journal:  Semin Plast Surg       Date:  2012-05       Impact factor: 2.314

9.  Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

Authors:  Bożena Anna Marszałek-Kruk; Piotr Wójcicki; Robert Smigiel; Wiesław H Trzeciak
Journal:  J Appl Genet       Date:  2012-03-14       Impact factor: 3.240

10.  Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.

Authors:  Daisuke Sakai; Jill Dixon; Michael J Dixon; Paul A Trainor
Journal:  PLoS Genet       Date:  2012-03-29       Impact factor: 5.917
  10 in total

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