Literature DB >> 16370286

Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report.

R Shane Tubbs1, W Jerry Oakes.   

Abstract

The authors present the case of a child diagnosed as having Beckwith-Wiedemann syndrome and Chiari I malformation. Hemihypertrophy is associated with Beckwith-Wiedemann syndrome and has been described in conjunction with Chiari I malformation. The authors hypothesize that the hemihypertrophy that may involve the skull base and Chiari I malformation found in their patient are not spurious findings but are pathologically related, perhaps by slight dysmorphologies of the posterior cranial fossa.

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Year:  2005        PMID: 16370286     DOI: 10.3171/ped.2005.103.2.0172

Source DB:  PubMed          Journal:  J Neurosurg        ISSN: 0022-3085            Impact factor:   5.115


  4 in total

Review 1.  Beckwith-Wiedemann syndrome and Chiari I malformation--a case-based review of central nervous system involvement in hemihypertrophy syndromes.

Authors:  Suhas Udayakumaran; Chiazor U Onyia
Journal:  Childs Nerv Syst       Date:  2015-02-17       Impact factor: 1.475

Review 2.  Tonsillar herniation spectrum: more than just Chiari I. Update and controversies on classification and management.

Authors:  Pietro Fiaschi; Giovanni Morana; Pasquale Anania; Andrea Rossi; Alessandro Consales; Gianluca Piatelli; Armando Cama; Marco Pavanello
Journal:  Neurosurg Rev       Date:  2019-11-10       Impact factor: 3.042

3.  New presenting symptoms of Chiari I malformation: report of two cases.

Authors:  Benedetta Ludovica Pettorini; Chenur Oesman; Shailendra Magdum
Journal:  Childs Nerv Syst       Date:  2010-03       Impact factor: 1.475

4.  Meningocele in a congolese female with beckwith-wiedemann phenotype.

Authors:  Sébastien Mbuyi-Musanzayi; Toni Lubala Kasole; Aimé Lumaka; Tony Kayembe Kitenge; Leon Kabamba Ngombe; Prosper Kalenga Muenze; Prosper Lukusa Tshilobo; François Tshilombo Katombe; Célestin Banza Lubaba Nkulu; Koenraad Devriendt
Journal:  Case Rep Genet       Date:  2014-12-28
  4 in total

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