DiGeorge syndrome presenting with imperforated anus and recurrent infections in neonatal period: a case report

• Main Authors: Md Rifin, Sakinah, Abd Rahman, Mohd Aizuddin, Jidin @ Mohd Tahar, Maznun, Mohamad Ishak, Nurul Najmi
• Format: Proceeding Paper
• Language: English
• Published: 2023
• Subjects: R Medicine (General); RA Public aspects of medicine; RJ Pediatrics
• Online Access: http://irep.iium.edu.my/107262/13/107262_Digeorge%20Syndrome%20presenting%20with%20imperforated%20Anus.pdf; http://irep.iium.edu.my/107262/; https://fmsconference.my/

DiGeorge syndrome or 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Signs and symptoms are associated with abnormal development of 3rd and 4th pharyngeal pouches. Early diagnosis in primary care through prenatal ultrasound and combined management with m...