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Wolf-Hirschhorn syndrome--two case-study reports focusing particularly on long-term survival
1Oxfordshire Learning Disability NHS Trust, Oxford, UK. Odete.Lopes@oldt.nhs.uk
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.
Method:
Interviews were undertaken with subjects, carers and next of kin, and the literature was searched.
Results:
Pertinent features of the syndrome are reported.
Main 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.