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Updated: Jul 1, 2025

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
An Infant Diagnosed With 22q11.2 Deletion Syndrome Following Frequent Apneic Attacks
Yuriko Umeyama1, Hiroyuki Tanaka1, Hidehito Ota1
1Department of Pediatrics, The University of Tokyo, Tokyo, JPN.
Abstract:
22q11.2 deletion syndrome (DS) is a microdeletion syndrome that pediatricians may encounter. It has a distinctive presentation and is often diagnosed based on a few characteristic symptoms. However, 22q11.2 DS with apnea as the initial symptom has never been reported. In this report, we describe the case of a one-month-old infant diagnosed with 22q11.2 DS due to apneic attacks. Early diagnosis of 22q11.2 DS is crucial because it enables appropriate intervention.
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