Medical & Research Info
We are thrilled to announce six new papers being published by the doctors at Children's Hospital of Philadelphia. Here is a note from Dr. Ian Krantz and the documents. Thank you to all the doctors at CHOP for believing in our cause and our children!
Dear All, I am happy to report that all of the PKS articles are finally in press! They are available on line currently and will come out in next months (December's) issue of the American Journal of Medical Genetics A. I have attached pdfs of all of the articles .My deepest thanks to the Foundation and all of the families who have supported this work over the years and a special thanks to Dr. Pallister for his efforts to make this happen and to Dr. Kosuke Izumi who really helped finalize all of these articles and push all of us to get them published !A little Thanksgiving gift! Have a great Holiday all, Ian
Candee et al PKS and Seizures AJMG 12-12
Izumi et al Dup 12p and PKS AJMG 12-12
Conlin et al SNP arrays and PKS AJMG 12-12
Kostanecka et al Development in PKS AJMG 12-12
Pallister PKS Overview AJMG 12-12
Wilkens et al PKS Clinical Overview AJMG 12-12
List of published articles and journals regarding Pallister-Killian Syndrome
(Thanks to Nic Acquarola for compiling)
Seizure Study being done by Utah Pediatric Neurologist
PKS Kids is fortunate to be working with Dr. Francis Filloux in regard to seizure activity in our children. Attached is a survey that Dr. Filloux would like interested parents to complete and email or mail back to him. If you complete it in Word you may save and attach to an email.
Dr Filloux's contact information is:
Francis M. Filloux, MD
Division Chief, Pediatric Neurology
University of Utah School of Medicine
Francis.Filloux@hsc.utah.edu
801-587-7466
Parental Authorization
Take the survey!
Word Version
Please let us know if you have any questions!
Medical Information and Printables
Pallister-Killian Syndrome is a unique diverse syndrome that raises lots of questions about care, symptoms and conditions.
Below is some information you can print and use at school, doctor’s offices and hospitals and for therapists, family & friends. Several open in Adobe Reader. Download Adobe here for free if you don't currently have it on your computer.
Information on subsequent pregnancies from Dr. Krantz
Note on life expectancy from Dr. Krantz
Spanish Translation
Clinical recommendations from Dr. Krantz.
Spanish Translation
Neurology presentation from Drs Filloux and Candee
Downloads:
PowerPoint Presentation: This PowerPoint is an excellent overview of Pallister-Killian Syndrome and the beginning of PKS Kids. You may print it or save it to a cd-rom (Downloading this file takes a long time, please be patient).
Family Brochure: This brochure is perfect for fundraising efforts and for those who want to know more about PKS Kids.
Spanish Translation
Medical Brochure: A great brochure for medical professionals who may not have encountered PKS before.
Clinical Evaluations: This is a list of recommended clinical evaluations for children who have been diagnosed with Pallister-Killian Syndrome. It was put together by Dr. Ian Krantz, Geneticist at Children's Hospital of Philadelphia. Each child may produce different or additional symptoms or traits so more tests/exams may be required.
Luke, Simon, Sofia: Various flyers that show the face of PKS and a brief description of Pallister-Killian Syndrome.
Overview of PKS Characteristics - Features of Pallister-Killian Syndrome
Spanish Translation
UNIQUE pamphlet - Excellent resource from UNIQUE
UNIQUE study paper--October 2010 UNIQUE PKS Family Weekend
RESEARCH INFORMATION
Grant/Research Letter
Letter from Dr. Krantz
Soon we hope to be able to post the published research from doctors at Children's Hospital of Philadelphia (CHoP). In the meantime, here is a letter from Dr. Krantz describing their goals and how you can assist the research.
Sarah P study
Here is an exciting new study done by doctors in Australia.
In May 2010 PKS Kids made a donation to CHoP to assist with research of Pallister-Killian Syndrome.
Dear Mrs. Hettiger,
This is tremendous! Thanks so much for your generosity and emphasizing PKS Kids' commitment to research! These funds will be put to direct use in our project to identify the exact genes that are dysregulated (turned up or down) in kids with PKS as a result of the extra chromosome 12 material as well as to help establish a comprehensive clinical database. This will lay the groundwork towards identifying targets for what we hope will be eventual therapeutic options for kids with PKS. Your organization and your kids have been an inspiration to us in our work and we hope that our work will result in a better understanding and clinical outcome for individuals and families affected by PKS.
With deepest heartfelt gratitude from our team here at CHOP!
Sincerely,
Ian
