Weaver syndrome and neuroblastoma.
Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia. Two previous cases of neuroblastoma have been reported in children with Weaver syndrome. We present a third description of a patient with Weaver syndrome and neuroblastoma. In a child with phenotypic characteristics consistent with Weaver syndrome, evaluation for neuroblastoma should be considered.
Coulter
Don
D
Division of Hematology-Oncology, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7220, USA. dcoulter@unch.unc.edu
Powell
Cynthia M
CM
Gold
Stuart
S
D000015:Abnormalities, Multiple; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D009447:Neuroblastoma / Q000175:diagnosis / Q000209:etiology*; D009687:Nuclear Proteins / Q000235:genetics; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human