Literature DB >> 14564218

Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

Muriel Holder-Espinasse1, Robin M Winter.   

Abstract

Noonan syndrome is a clinically and genetically heterogeneous genetic condition. Arnold-Chiari malformation has been previously reported in three cases of Noonan syndrome. We describe a fourth case with this association. We suggest that brain and cervical spine MRI should be performed if neurological symptoms are present.

Entities:  

Mesh：

Year:  2003        PMID： 14564218     DOI： 10.1097/00019605-200310000-00013

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  12 in total

Review 1.  High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

Authors:  Karen W Gripp; Elizabeth Hopkins; Daniel Doyle; William B Dobyns
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

2.  Bilateral perysilvian polymicrogyria in Chiari I malformation.

Authors:  Alberto Spalice; Pasquale Parisi; Mario Mastrangelo; Francesca De Luca; Alberto Verrotti; Paola Iannetti
Journal:  Childs Nerv Syst       Date:  2006-10-13       Impact factor: 1.475

3.  Chiari type I and hydrocephalus.

Authors:  Luca Massimi; Giovanni Pennisi; Paolo Frassanito; Gianpiero Tamburrini; Concezio Di Rocco; Massimo Caldarelli
Journal:  Childs Nerv Syst       Date:  2019-06-21       Impact factor: 1.475

4.  Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Authors:  Veronica Saletti; Ilaria Viganò; Giulia Melloni; Chiara Pantaleoni; Ignazio Gaspare Vetrano; Laura Grazia Valentini
Journal:  Childs Nerv Syst       Date:  2019-07-30       Impact factor: 1.475

Review 5.  Hydrocephalus and Chiari type I malformation.

Authors:  Concezio Di Rocco; Paolo Frassanito; Luca Massimi; Simone Peraio
Journal:  Childs Nerv Syst       Date:  2011-09-17       Impact factor: 1.475

6.  Association between Noonan syndrome and Chiari I malformation: a case-based update.

Authors:  Yann Shern Keh; Laurence Abernethy; Benedetta Pettorini
Journal:  Childs Nerv Syst       Date:  2012-12-14       Impact factor: 1.475

7.  Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Authors:  Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria C Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2010-07-08       Impact factor: 11.025

8.  Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Authors:  Karen W Gripp; Dina J Zand; Laurie Demmer; Carol E Anderson; William B Dobyns; Elaine H Zackai; Elizabeth Denenberg; Kim Jenny; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802

9.  A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Authors:  Karen W Gripp; Kimberly A Aldinger; James T Bennett; Laura Baker; Jessica Tusi; Nina Powell-Hamilton; Deborah Stabley; Katia Sol-Church; Andrew E Timms; William B Dobyns
Journal:  Am J Med Genet A       Date:  2016-06-05       Impact factor: 2.802

10.  Association of Chiari malformation and vitamin B12 deficit in a family.

Authors:  Melanie Welsch; Sebastian Antes; Michael Kiefer; Sascha Meyer; Regina Eymann
Journal:  Childs Nerv Syst       Date:  2013-03-07       Impact factor: 1.475
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