Results 31 to 40 of about 10,384 (199)

Delayed diagnosis of annular pancreas in 11-year-old girl with DiGeorge syndrome

Journal of Pediatric Surgery Case Reports, 2020
DiGeorge Syndrome is a collection of symptoms stemming from a heterozygous microdeletion on chromosome 22. An eleven-year-old girl with DiGeorge syndrome presented to our Pediatric Surgery with a history of episodes of vomiting since birth, and a recent ...
Mary Margaret Barr, James Gilbert, Zaria Murrell   +2 more
doaj   +1 more source

Wandering spleen with splenic torsion in a child with DiGeorge syndrome

Radiology Case Reports, 2019
Wandering spleen is a rare condition, occurring due to either abnormal development of or abnormal laxity of suspensory ligaments. The hypermobility of the spleen predisposes these patients to splenic torsion, which may be a life-threatening complication.
Charlotte S. Taylor, MD, Candace Howard-Claudio, MD, PhD   +1 more
doaj   +1 more source

22q11.2 microdeletion syndrome as a multidisciplinary problem

Pediatria i Medycyna Rodzinna, 2017
22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases,
Marta Skoczyńska, Izabela Lehman
doaj   +1 more source

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

Frontiers in Endocrinology, 2023
IntroductionThe chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms ...
Walter Maria Sarli, Walter Maria Sarli, Silvia Ricci, Silvia Ricci, Lorenzo Lodi, Lorenzo Lodi, Federica Cavone, Lucia Pacillo, Lucia Pacillo, Lucia Pacillo, Carmela Giancotta, Graziamaria Ubertini, Giampiero Baroncelli, Caterina Cancrini, Caterina Cancrini, Caterina Cancrini, Chiara Azzari, Chiara Azzari, Stefano Stagi, Stefano Stagi   +19 more
doaj   +1 more source

Schizophrenia in DiGeorge Syndrome: A Unique Case Report [PDF]

, 2018
Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head.
Carrington, Alexis, Griffiths, Alexa, Mohit, Abdul, Khan, Ali M., Saeed, Hina, Rizvi, Sukaina, Aribara, Akeem M.   +6 more
core   +2 more sources

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

European Journal of Case Reports in Internal Medicine, 2021
22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia,
Melissa Elise van der Meijs, Dave Henri Schweitzer, Henk Boom   +2 more
doaj   +1 more source

Oral and Clinical Manifestations of DiGeorge Syndrome with Primary Hypoparathyroidism: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
DiGeorge syndrome is an autosomal dominant inherited disorder caused by a deletion of chromosome 22q11.2. It is a multisystem condition, classically presenting with a triad of congenital heart defects, hypoplasia of the parathyroid glands and thymus,
Nayantara Menon, Bb Shahala, Mp Uthkal, Shahana P Sulaiman, Amjad Ali   +4 more
doaj   +1 more source

Autoimmune hemolytic anemia associated with vitamin B12 deficiency and viral illness in DiGeorge syndrome. Case report and literature review

Clinical Case Reports, 2021
Vitamin B12 plays a crucial role in cell maturation and differentiation. Its deficiency can lead to cytopenias and even hemolysis. We suggest regular monitoring and maintenance of Vit B12 levels in DiGeorge syndrome patients to prevent such triggers.
Zohaib Yousaf, Fateen Ata, Phool Iqbal, Bassam Muthanna, Adeel Ahmad Khan, Jaweria Akram, Anand Kartha   +6 more
doaj   +1 more source

Late diagnosed DiGeorge syndrome in a 44-year-old female [PDF]

, 2021
\(\bf Background\) DiGeorge syndrome, also known as ‘CATCH 22’, is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the ...
Sommer, Philipp (Prof. Dr. med.), Isgandarova, Khuraman (Dr. med.), Molatta, Stephan (Dr. med. Dipl. Ing.)   +2 more
core  

A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings

Case Reports in Immunology, 2020
Background. Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency.
Tinsae Alemayehu, Solomie Jebessa Deribessa   +1 more
doaj   +1 more source