Partial digeorge syndrome with hypertrophied arytenoids in a neonate: Expanding the clinical phenotype

• मुख्य लेखकों: Siddharth Madabhushi (लेखक), Thirunavukkarasu Saravanamuthu (लेखक), Chandra Kumar Natarajan (लेखक), Vaanathi Hementha Kumar (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Background: DiGeorge Syndrome (DGS) is caused by the 22q11 deletion. There is wide variation in the phenotypic presentation due to incomplete penetrance. Since dysmorphism is subtle in neonates, a high index of suspicion should be kept. Clinical Description: A 2.8 kg term baby girl born of a cesarea...