Literature DB >> 12068351

Sotos syndrome (cerebral gigantism): analysis of 8 cases.

Débora Gusmão Melo1, Angelina Xavier Acosta, Maria Aparecida de Almeida Salles, João Monteiro de Pina-Neto, José Daniel Vieira de Castro, Antonio Carlos Santos.   

Abstract

Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.

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Year:  2002        PMID： 12068351     DOI： 10.1590/s0004-282x2002000200009

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN： 0004-282X            Impact factor:   1.420


  4 in total

1.  Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.

Authors:  Francesco Nicita; Luigi Tarani; Alberto Spalice; Marina Grasso; Laura Papetti; Massimiliano Cecconi; Claudio Di Biasi; Fabiana Ursitti; Paola Iannetti
Journal:  J Genet       Date:  2011-04       Impact factor: 1.166

Review 2.  Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors:  Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal:  Brain       Date:  2014-01-28       Impact factor: 13.501

Review 3.  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 4.  Cognition and Behaviour in Sotos Syndrome: A Systematic Review.

Authors:  Chloe Lane; Elizabeth Milne; Megan Freeth
Journal:  PLoS One       Date:  2016-02-12       Impact factor: 3.240
  4 in total

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