Literature DB >> 889595

Dominant inheritance of cerebral gigantism.

J Zonana, J F Sotos, C A Romshe, D A Fisher, M J Elders, D L Rimoin.   

Abstract

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.

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Year:  1977        PMID: 889595     DOI: 10.1016/s0022-3476(77)80822-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  7 in total

1.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin.

Authors:  J M Wit; F A Beemer; P G Barth; J W Oorthuys; P F Dijkstra; J L Van den Brande; N J Leschot
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

Review 3.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

4.  Cerebral gigantism in infancy: implications for psychological and social development.

Authors:  A B Livingood; M A Borengasser
Journal:  Child Psychiatry Hum Dev       Date:  1981

5.  Endocrine disorders associated with mental retardation.

Authors:  C M Reddy
Journal:  J Natl Med Assoc       Date:  1980-03       Impact factor: 1.798

6.  A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

Authors:  A Behmel; E Plöchl; W Rosenkranz
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  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

  7 in total

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