Document Detail


Sotos syndrome: a novel nonsense mutation in nsd1 gene, presenting with neonatal cutis laxa.
MedLine Citation:
PMID:  21482210     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients with a clinical diagnosis of Sotos syndrome, without confirmatory molecular analysis. Our patient was tested for congenital disorders of glycosilation as part of the cutis laxa differential diagnosis. During the postnatal follow-up period the head circumference and height became greater than 97(th) percentile (having been close to the 50(th) in the newborn period). These facts and the progressive development of characteristic phenotypic features of Sotos syndrome during the first months of life gave us the clue for the clinical diagnosis and the molecular investigation.
Authors:
E Cortès-Saladelafont; K Arias-Sáez; D Esteban-Oliva; W Coroleu-Lletget; P Martín-Jiménez; G Pintos-Morell
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-7
Journal Detail:
Title:  Anales de pediatria (Barcelona, Spain : 2003)     Volume:  -     ISSN:  1695-9531     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101162596     Medline TA:  An Pediatr (Barc)     Country:  -    
Other Details:
Languages:  SPA     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
Affiliation:
Servicio de Pediatría, Hospital Universitario Germans Trias i Pujol, Badalona, España.
Vernacular Title:
Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal.
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