Features of Diagnosing and Managing a Patient with DiGeorge Syndrome
نویسندگان
چکیده
منابع مشابه
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15 صفحه اولDigeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
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It is now over 28 years since Dr Angelo DiGeorge' commented on a paper by Dr Max Cooper and colleagues2 regarding the congenital absence of the thymus. At the 1965 Society for Pediatric Research (SPR) meeting, Dr Cooper gave a paper showing that the lymphoid system of the chicken consisted of two different components, the bursal system and the thymic system. Ablation of the bursal system caused...
متن کاملFeatures of DiGeorge syndrome and CHARGE association in five patients.
We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were norma...
متن کاملType III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome
We studied a 14 year-old boy with partial DiGeorge syndrome (DGS), status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS) and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT). Coagulation studies revealed homozygous methylene tetrahydrofol...
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ژورنال
عنوان ژورنال: CHILD`S HEALTH
سال: 2016
ISSN: 2307-1168,2224-0551
DOI: 10.22141/2224-0551.3.71.2016.76343