Fine grained facial image analysis in Wolf-Hirschhorn syndrome
Research type
Research Study
Full title
Fine grained facial image analysis in Wolf-Hirschhorn syndrome
IRAS ID
188638
Contact name
Oliver Quarrell
Contact email
Sponsor organisation
Sheffield Childrens Hospital
Duration of Study in the UK
4 years, 9 months, 1 days
Research summary
Wolf-Hirschhorn syndrome (WHS) is very a rare disorder which results from loss of genetic material from the tip of chromosome 4. We cannot see the individual genes down the microscope but they get wound up onto structures called chromosomes which we can see. We have two copies of our genetic material so the chromosomes are in pairs: one chromosome from each pair comes from the mother and one from the father. If genetic material is missing from the tip of chromosome 4 then WHS is diagnosed. Some children have a small amount of genetic material missing and some children have a larger amount missing. In some cases there may be additional material from another chromosome. We recognise WHS if babies/children have problems with growth, development and epilepsy. There are also characteristic facial features. We have measured these characteristic facial features in children/young people with classical WHS using 3-Dimensional photographic images. It has been suggested that there is a very small area, called the critical region, which is always missing. Routine genetic tests have improved so that we can detect very small amounts of material which are missing from chromosome 4 in much finer detail. We would like to study children who have a just a very small amount of genetic material missing from the tip of chromosome 4 especially if it does not include the typical region. We would like to combine this detailed genetic result with a detailed analysis of the facial features and compare the results of the 3-D image with our series of patients with classical WHS facial features.
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
16/YH/0216
Date of REC Opinion
22 Aug 2016
REC opinion
Further Information Favourable Opinion