PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
 
J Med Genet. Jun 2003; 40(6): 436–440.
PMCID: PMC1735492
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
M Rio, L Clech, J Amiel, L Faivre, S Lyonnet, M Le Merrer, S Odent, D Lacombe, P Edery, R Brauner, O Raoul, P Gosset, M Prieur, M Vekemans, A Munnich, L Colleaux, and V Cormier-Daire
Unité de Recherche sur les Handicaps Génétiques de l'Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Abstract
Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria.
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group