title: Wolf-Hirschhorn syndrome--two case-study reports focusing particularly on long-term survival.
abstract: BACKGROUND
  The clinical features of this rare chromosomal syndrome are described in two individuals. Our limited knowledge of the natural history of this disorder has made it difficult to counsel parents as well as outline specific treatment and management plans.
  
  
  METHODS
  Interviews were undertaken with subjects, carers and next of kin, and the literature was searched.
  
  
  RESULTS
  Pertinent features of the syndrome are reported.
  
  
  CONCLUSIONS
  These two cases highlight that long-term survival may occur and that accurate diagnosis is paramount so that healthcare professionals are able to provide accurate information.
authors.affiliation: Oxfordshire Learning Disability NHS Trust, Oxford, UK. Odete.Lopes@oldt.nhs.uk
authors.forename: O
authors.initials: O
authors.lastname: Lopes
authors.forename: G
authors.initials: G
authors.lastname: Barton
authors.forename: J
authors.initials: J
authors.lastname: Morgan
mesh_terms: D000328:Adult; D000367:Age Factors; D002352:Carrier Proteins / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012097:Repressor Proteins / Q000235:genetics*; D017741:Survivors / Q000523:psychology*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D012097:Repressor Proteins; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human