Wolf-Hirschhorn syndrome--two case-study reports focusing particularly on long-term survival.
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.
Lopes
O
O
Oxfordshire Learning Disability NHS Trust, Oxford, UK. Odete.Lopes@oldt.nhs.uk
Barton
G
G
Morgan
J
J
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
D002352:Carrier Proteins; D012097:Repressor Proteins; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human