Results 61 to 70 of about 9,184 (168)
British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim +21 more
wiley +1 more source
Prenatal Diagnosis Of Catch22 Syndrome
Gynecology Obstetrics & Reproductive Medicine, 2010 Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen ...
Rana Karayalçın +5 more
doaj
Immunodeficiency in children with dysmorphic disorders
Pediatria i Medycyna Rodzinna, 2015 Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies.
Marta Ogrodowczyk +3 more
doaj +1 more source
Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome
Case Reports in Orthopedics, 2015 A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable
Massimo Berruto +5 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
openaire +2 more sources
Peripheral Blood Morphology as a Clue to 22q11.2 Deletion Syndrome
eJHaem, Volume 7, Issue 2, April 2026.
Jochen Pfeifer +4 more
wiley +1 more source
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
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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
doaj +1 more source