Literature DB >> 3400723

Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

D J Goldstein1, R E Ward, E Moore, A S Fremion, R S Wappner.   

Abstract

We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypotonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.

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Year:  1988        PMID: 3400723     DOI: 10.1002/ajmg.1320290408

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Authors:  Kyungsoo Ha; Priya Anand; Jennifer A Lee; Julie R Jones; Chong Ae Kim; Debora Romeo Bertola; Jonathan D J Labonne; Lawrence C Layman; Wolfgang Wenzel; Hyung-Goo Kim
Journal:  Genes (Basel)       Date:  2016-11-09       Impact factor: 4.096

  2 in total

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