Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

OBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. RESULTS: Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. CONCLUSION: The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.

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Main Authors: Pavarino Bertelli,Érika Cristina, Biselli,Joice Matos, Bonfim,Daiana, Goloni-Bertollo,Eny Maria
Format: Digital revista
Language:English
Published: Associação Médica Brasileira 2009
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302009000500017
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spelling oai:scielo:S0104-423020090005000172009-11-17Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of BrazilPavarino Bertelli,Érika CristinaBiselli,Joice MatosBonfim,DaianaGoloni-Bertollo,Eny Maria Down syndrome Phenotype Physical Examination OBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. RESULTS: Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. CONCLUSION: The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.info:eu-repo/semantics/openAccessAssociação Médica BrasileiraRevista da Associação Médica Brasileira v.55 n.5 20092009-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302009000500017en10.1590/S0104-42302009000500017
institution SCIELO
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country Brasil
countrycode BR
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databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Pavarino Bertelli,Érika Cristina
Biselli,Joice Matos
Bonfim,Daiana
Goloni-Bertollo,Eny Maria
spellingShingle Pavarino Bertelli,Érika Cristina
Biselli,Joice Matos
Bonfim,Daiana
Goloni-Bertollo,Eny Maria
Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
author_facet Pavarino Bertelli,Érika Cristina
Biselli,Joice Matos
Bonfim,Daiana
Goloni-Bertollo,Eny Maria
author_sort Pavarino Bertelli,Érika Cristina
title Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
title_short Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
title_full Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
title_fullStr Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
title_full_unstemmed Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil
title_sort clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of brazil
description OBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. RESULTS: Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. CONCLUSION: The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.
publisher Associação Médica Brasileira
publishDate 2009
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302009000500017
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