3. Graduated 1946 from Temple University
In WWII, served as a medical officer in Linz, Germany
(where Adolf Hitler grew up)
In 1953, became a professor at Temple
He was a pediatric endocrinologist- deals with physical
growth and sexual development in childhood
He noted the immunological consequences associated
with the absence of the thymus gland
Published his findings in 1968
4. Caused by a genetic mutation on 22nd chromosome
that results in the deletion of a portion of it
Autosomal dominant immunodeficiency
Results in poor development of several body systems
The underlying cause is a shrunken or missing thymus
gland
5. 2.
Contains 500 to
800 genes
Genes codes for
the development
of the thymus
gland are missing
Region known as
22q11.2
Contains 30-40
genes
7. Specialization in the 4.
immune system
Most active as a child
and begins to atrophy
in puberty as a result of
increase in sex
hormones
Produce T-
Lymphocytes
These are your white
blood cells
8. Shrinkage of parathyroid glands- results in
hyposecretion of PTH (parathyroid hormone)
Messes up regulation of calcium and phosphorus
Bluish skin (poor circulation of oxygen) – cyanosis
Delayed speech development
Cleft palate can usually be surgically repaired
Spasms of the mouth and throat (tetany)
Frequent infections due to decline in immune system
Low set ears, wide set eyes, or a narrow groove in the
upper lip
10. Not an actual syndrome, rather a type of disorder
Cardiac effects
Abnormal facial features
Thymic hypoplasia
Cleft palate
Hypocalcaemia
22 –refers to the chromosome
11. DSG occurs in one infant per 4,000 born
It is a lifelong condition that affects mostly children
and infants
Approximately one-third of affected adults experience
recurring infections 7.
12. Pitcher for the Chicago Cubs
In 2009 Dempster and wife
Jenny gave birth to daughter
Riley Dempster who was born
with Digeorge Syndrome.
Dr.’s focus on Riley’s feeding and
swallowing
Tracheostomy and Passy-muir
Valve
Created “Dempster Family
Foundation” for kids with
Digeorge syndrome.
Ryan was nominated twice for
the Roberto Clemente award for
his community service.
14. 1. MayoClinic. (2011, August 09). Digeorge syndrome. Retrieved
from http://www.cnn.com/HEALTH/library/digeorge-
syndrome/DS00998.html
2. Jeffries, I. (n.d.). Who named it?. Retrieved from
http://www.whonamedit.com
3. Win, P. H., & Kaliner, M. A. (2010). Immunilogic aspects of
digeorge syndrome. Retrieved from
http://emedicine.medscape.com/article/135711-overview
4. Bawle, E. V. (2010, August 11). Digeorge syndrome. Retrieved
from http://emedicine.medscape.com/article/886526-
overview
5. Children's Hospital of Wisconsin. (2011). Digeorge syndrome.
Retrieved from
http://www.chw.org/display/PPF/DocID/23047/router.aspm/d
octor.cfm/2047.html
15. 1)Max Appeal. (n.d.). Supporting families affected by digeorge syndrome, vcfs
and 22q11.2 deletion. Retrieved from
http://www.maxappeal.org.uk/information/introduction_(faqs)
2)Chromosome 22 ideogram. (2006, January 06). Retrieved from
http://www.springerimages.com/Images/Biomedicine/5-10.1186_1471-2407-6-2-
0
3) Tissot, R. (n.d.). www.uic.edu. Retrieved from
http://www.uic.edu/classes/bms/bms655/lesson3.html
4)Thirdage.com. (n.d.). Retrieved from
http://www.thirdage.com/hc/p/239516/what-is-removal-of-the-thymus-gland
5)Good Health Hub. (2011, November 24). Digeorge syndrome. Retrieved from
http://goodhealthhub.com/digeorge-syndrome/
6)Unsw embryology. (2011, October 13). Retrieved from
http://php.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project
_6
7) Polyvore. (2010). Retrieved from
http://www.polyvore.com/cartoon_people_world/set?id=16805710
16. Arroyave, L. (2010, August 08). Cubs' ryan dempster
hosting 'south beach' fundraiser at joe's
seafood.Chicago Tribune. Retrieved from
http://leisureblogs.chicagotribune.com/about-last-
night/2010/08/cubs-ryan-dempster-hosting-south-
beach-fundraiser-at-joes-seafood.html
Rile'ys milestones. (2009, April). Retrieved from
http://dempsterfamilyfoundation.org/about_family/ri
leys_milestones/