DI – GEORGE

SYNDROME
Presented By: Garima Dutta
 DiGeorge syndrome (DGS) is a primary
immunodeficiency disease (PIDD) -
susceptibility to infections due to decreased
T cell production and function due to an
absent or poorly developed thymus.
Can result in altered facial characteristics,
abnormal gland development (parathyroid
or thyroid) or heart defects.
Most cases result from a deletion of
chromosome 22q11.2 (the DGS
chromosome region).
 SYMPTOMS
• Heart murmur and bluish skin due to poor
circulation of oxygen-rich blood (cyanosis) as a
result of a heart defect
• Frequent infections
• Certain facial features
• cleft palate or other problems with the palate
• Delayed growth
• Difficulty feeding, failure to gain weight or
gastrointestinal problems
• Breathing problems
• Delayed development
• Delayed speech development
• Learning delays
• Behavior problems
 01.
A Patient with 22q11.2 Deletion
Syndrome: Case Report
 02.
Case Report: Two Patients with Partial
DiGeorge Syndrome Presenting with
Attention Disorder and Learning Difficulties
 03.
A First Case Report of DiGeorge
Syndrome from Ethiopia
THANK YOU