Literature DB >> 22627435

Apert syndrome in a newborn infant without craniosynostosis.

Sivaroopi Coomaralingam1, Philip Roth.   

Abstract

Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, we suggest that this diagnosis be considered even in the absence of this hallmark finding.

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Year:  2012        PMID: 22627435     DOI: 10.1097/SCS.0b013e31824de344

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


  6 in total

Review 1.  The molecular and cellular basis of Apert syndrome.

Authors:  Chao Liu; Yazhou Cui; Jing Luan; Xiaoyan Zhou; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-11

2.  Apert Syndrome: Late presentation and treatment challenges.

Authors:  Abdelmoneim E M Kheir; Ahlam A Hamed; Wala M Maki; Lina H M Hasan
Journal:  Sudan J Paediatr       Date:  2014

3.  Apert syndrome without craniosynostosis.

Authors:  Diego de Ângelis Ramos; Hamilton Matushita; Daniel Dante Cardeal; Clarissa Nóbrega Gambarra Nascimento; Manoel Jacobsen Teixeira
Journal:  Childs Nerv Syst       Date:  2019-01-14       Impact factor: 1.475

4.  Unilateral Coronal Craniosynostosis in an Apert-Like Patient.

Authors:  Navid Pourtaheri; Derek Z Wang; Robert P Lesko; Christopher M Bonfield; Peter Taub; Anand R Kumar
Journal:  Plast Surg (Oakv)       Date:  2018-10-03       Impact factor: 0.947

5.  Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report.

Authors:  Yahong Li; Dingyuan Ma; Yun Sun; Lulu Meng; Yanyun Wang; Tao Jiang
Journal:  Front Genet       Date:  2018-05-17       Impact factor: 4.599

6.  A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report.

Authors:  Qingyang Shi; Rulin Dai; Ruixue Wang; Jili Jing; Xiaowei Yu; Ruizhi Liu; Yanhong Liu
Journal:  Medicine (Baltimore)       Date:  2020-09-25       Impact factor: 1.817

  6 in total

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