DiGeorge Syndrome: a not so rare disease

Bibliographic Details
Main Author: Fomin, Angela BF
Publication Date: 2010
Other Authors: Pastorino, Antonio Carlos, Kim, Chong Ae, Pereira, CA, Carneiro-Sampaio, Magda, Abe-Jacob, Cristina Miuki
Format: Article
Language: eng
Source: Clinics
Download full: https://www.revistas.usp.br/clinics/article/view/18543
Summary: 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.
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spelling DiGeorge Syndrome: a not so rare disease DiGeorge syndromeImmunologic deficiency syndromesThymus22q11.2 deletion 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. Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/1854310.1590/S1807-59322010000900009Clinics; Vol. 65 No. 9 (2010); 865-869 Clinics; v. 65 n. 9 (2010); 865-869 Clinics; Vol. 65 Núm. 9 (2010); 865-869 1980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/18543/20606Fomin, Angela BFPastorino, Antonio CarlosKim, Chong AePereira, CA Carneiro-Sampaio, MagdaAbe-Jacob, Cristina Miukiinfo:eu-repo/semantics/openAccess2012-05-23T11:31:42Zoai:revistas.usp.br:article/18543Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2012-05-23T11:31:42Clinics - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv DiGeorge Syndrome: a not so rare disease
title DiGeorge Syndrome: a not so rare disease
spellingShingle DiGeorge Syndrome: a not so rare disease
Fomin, Angela BF
DiGeorge syndrome
Immunologic deficiency syndromes
Thymus
22q11.2 deletion
title_short DiGeorge Syndrome: a not so rare disease
title_full DiGeorge Syndrome: a not so rare disease
title_fullStr DiGeorge Syndrome: a not so rare disease
title_full_unstemmed DiGeorge Syndrome: a not so rare disease
title_sort DiGeorge Syndrome: a not so rare disease
author Fomin, Angela BF
author_facet Fomin, Angela BF
Pastorino, Antonio Carlos
Kim, Chong Ae
Pereira, CA
Carneiro-Sampaio, Magda
Abe-Jacob, Cristina Miuki
author_role author
author2 Pastorino, Antonio Carlos
Kim, Chong Ae
Pereira, CA
Carneiro-Sampaio, Magda
Abe-Jacob, Cristina Miuki
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Fomin, Angela BF
Pastorino, Antonio Carlos
Kim, Chong Ae
Pereira, CA
Carneiro-Sampaio, Magda
Abe-Jacob, Cristina Miuki
dc.subject.por.fl_str_mv DiGeorge syndrome
Immunologic deficiency syndromes
Thymus
22q11.2 deletion
topic DiGeorge syndrome
Immunologic deficiency syndromes
Thymus
22q11.2 deletion
description 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.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.revistas.usp.br/clinics/article/view/18543
10.1590/S1807-59322010000900009
url https://www.revistas.usp.br/clinics/article/view/18543
identifier_str_mv 10.1590/S1807-59322010000900009
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://www.revistas.usp.br/clinics/article/view/18543/20606
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
dc.source.none.fl_str_mv Clinics; Vol. 65 No. 9 (2010); 865-869
Clinics; v. 65 n. 9 (2010); 865-869
Clinics; Vol. 65 Núm. 9 (2010); 865-869
1980-5322
1807-5932
reponame:Clinics
instname:Universidade de São Paulo (USP)
instacron:USP
instname_str Universidade de São Paulo (USP)
instacron_str USP
institution USP
reponame_str Clinics
collection Clinics
repository.name.fl_str_mv Clinics - Universidade de São Paulo (USP)
repository.mail.fl_str_mv ||clinics@hc.fm.usp.br
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