https://scholars.lib.ntu.edu.tw/handle/123456789/509256
Title: | DiGeorge syndrome with truncus arteriosus: Report of one case | Authors: | Liang P.-H. Chen M.-R. Shyur S.-D. Lee Y.-J. Lin S.-P. Yu M.-T. ING-SH CHIU SHYH-JYE CHEN |
Issue Date: | 2004 | Journal Volume: | 45 | Journal Issue: | 3 | Start page/Pages: | 174-177 | Source: | Acta Paediatrica Taiwanica | Abstract: | DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical. correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/509256 | ISSN: | 1608-8115 | SDG/Keyword: | gluconate calcium; parathyroid hormone; article; case report; chromosome 22q; chromosome deletion; computer assisted tomography; cyanosis; DiGeorge syndrome; echocardiography; face dysmorphia; fluorescence in situ hybridization; heart arrest; heart murmur; human; hypocalcemia; hypoparathyroidism; infant; lymphocytopenia; male; patent ductus arteriosus; resuscitation; T lymphocyte; thymus disease; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Fatal Outcome; Heart Arrest; Humans; In Situ Hybridization, Fluorescence; Infant, Low Birth Weight; Infant, Newborn; Male; Truncus Arteriosus, Persistent |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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