DiGeorge Syndrome: a Not So Rare Disease

Overview

Journal Clinics (Sao Paulo)

Publisher Elsevier

Specialty General Medicine

Date 2010 Nov 5

PMID 21049214

Citations 19

Authors

Angela B F Fomin

Antonio Carlos Pastorino

Chong Ae Kim

C A Pereira

Magda Carneiro-Sampaio

Cristina Miuki Abe-Jacob

Affiliations

Soon will be listed here.

Abstract

Introduction: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions.

Objectives: To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome.

Methods: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities.

Results: Of 14 patients (8m - 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n=2).

Conclusion: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.

Citing Articles

Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.

Silva I, Gil-da-Silva-Lopes V Orphanet J Rare Dis. 2024; 19(1):255.

PMID: 38971792 PMC: 11227184. DOI: 10.1186/s13023-024-03273-z.

Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

Iordanescu I, Catana A, Cuzmici Z, Chelu I, Dragomir C, Militaru M J Pers Med. 2024; 14(3).

PMID: 38541032 PMC: 10971565. DOI: 10.3390/jpm14030290.

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.

Szczawinska-Poplonyk A, Schwartzmann E, Chmara Z, Glukowska A, Krysa T, Majchrzycki M Int J Mol Sci. 2023; 24(9).

PMID: 37176024 PMC: 10179617. DOI: 10.3390/ijms24098317.

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.

Menghi M, Micangeli G, Tarani F, Putotto C, Pirro F, Mariani A Int J Mol Sci. 2023; 24(4).

PMID: 36835652 PMC: 9965448. DOI: 10.3390/ijms24044242.

Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome.

Lasprilla-Tovar J, Zuluaga N, Forero C, Correa-Jimenez O, Sierra J J Clin Res Pediatr Endocrinol. 2022; 15(1):16-24.

PMID: 35984227 PMC: 9976171. DOI: 10.4274/jcrpe.galenos.2022.2022-4-12.

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