DiGeorge syndrome
نویسندگان
چکیده
منابع مشابه
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests.
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
متن کاملDigeorge 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...
متن کاملDiGeorge syndrome with mild episodic hypocalcemia
7. Nguyen NP, Borok tL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. thorax. 2009;64:174-8. 8. roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta clin Bel. 1983;38:329-32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, rodríguez JM, Gil P, et al. incre...
متن کاملDiGeorge syndrome who developed lymphoproliferative mediastinal mass
DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic ...
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ژورنال
عنوان ژورنال: Wiener klinische Wochenschrift
سال: 2018
ISSN: 0043-5325,1613-7671
DOI: 10.1007/s00508-018-1335-y