학술논문
Holt-Oram Syndrome with Pulmonary Involvement—A Valuable Algorithm to Follow.
Document Type
Article
Source
Subject
*LUNG abnormalities
*PHYSICAL diagnosis
*ADULT respiratory distress syndrome
*RARE diseases
*COMPUTED tomography
*CONGENITAL disorders
*CHEST X rays
*ATRIAL septal defects
*X-rays
*PULMONARY arterial hypertension
*RESPIRATORY organ abnormalities
*DYSPNEA
*MULTIPLE human abnormalities
*DISEASE complications
*SYMPTOMS
*CHILDREN
RADIOGRAPHY of the arm
ARM abnormalities
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Language
ISSN
0971-3026
Abstract
Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect. [ABSTRACT FROM AUTHOR]