Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
South African Journal of Psychiatry, 2018 DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch.
Keneilwe Molebatsi, Anthony O. Olashore
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Dilated cardiomyopathy: A preventable presentation of DiGeorge Syndrome [PDF]
, 2015 Patients with cardiac failure require careful evaluation to determine the precise nature of the cause of their illness. Genetic causes of dilated cardiomyopathy are well known but inherited conditions may lead to unexpected consequences through ...
A Jamieson, CJ Smith
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Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis
Journal of Health Sciences, 2014 DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches.
Senka Mesihović Dinarević, Emina Vukas
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Severe dystrophy in DiGeorge syndrome
World Journal of Gastroenterology, 2009 We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow's milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was
Barnabás, Rózsai +4 more
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A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME [PDF]
, 2009 A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly.
Balci, S. +4 more
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RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction [PDF]
, 2002 RanBP1, a velocardiofacial syndrome/DiGeorge syndrome candidate gene, is expressed in the frontonasal processes, branchial arches, aortic arches, and limb buds. At these sites, RanBP1 apparently coincides with neural crest-derived mesenchymal cells.
Maynard, Thomas +6 more
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The Turkish Journal of Pediatrics, 2000 CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11.
M Alikaşifoğlu +5 more
doaj
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression
Case Reports in Psychiatry, 2016 Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome ...
James J. Bresnahan +3 more
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DiGeorge syndrome presenting with imperforated anus and recurrent infections in neonatal period: a case report [PDF]
, 2023 DiGeorge syndrome or 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Signs and symptoms are associated with abnormal development of 3rd and 4th pharyngeal pouches.
Mohamad Ishak, Nurul Najmi +3 more
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A young man with DiGeorge syndrome and tachycardia. [PDF]
Neth Heart J, 2023 Bradt N +3 more
europepmc +2 more sources