Lymphatic Problems in Noonan Syndrome Questionnaire
[April 2015]
We should be very grateful if you would complete this questionnaire.
Your name (optional):
Your age:
Do you (or your child) have a diagnosis of Noonan syndrome?
What problems do you/he/she have related to this diagnosis?
Have you had any genetic testing? If so, did they a mistake in any of the genes
associated with Noonan Syndrome? Which one?
During the pregnancy:
1. Was the neck thickness measured at 11 to 13 weeks gestation?
2. Was it increased?
3. What was the measurement (optional)?
4. Was there any other problem identified during the pregnancy?
o Hydrops fetalis (swollen baby)?
If so, what gestation did it start?
o Polyhydramnios (extra fluid around the baby) ?
o Congenital heart disease?
o Other problems?
Neonatal period (first month of life)
1. Did you/your child have swelling of the limbs at birth? If so, which limbs?
2. Was there fluid in the lung cavity?
3. Was there fluid in the abdominal cavity?
If so, please give more details here:
Do you /your child have any swelling of:
1. Any limbs? (if so, which)
2. Face?
3. Genital region?
4. Fluid in the lung cavity?
5. Fluid in the abdominal cavity?
6. Leakage of fluid anywhere?
Do you or your child have:
1. Persistent diarrhoea?
2. Shortness of breath on exertion?
3. Any other relevant information?
Thank you so much for completing this
Please return to Peter Clarke or post to:
Dr Sahar Mansour
Consultant and Honorary Reader in Clinical Genetics
SW Thames Regional Genetics Service
St George's Healthcare NHS Trust
London
SW17 0RE.