DiGeorge Syndrome: a not so rare disease
Main Author: | |
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Publication Date: | 2010 |
Other Authors: | , , , , |
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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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 |
_version_ |
1800222755830890496 |