Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

Detalhes bibliográficos
Autor(a) principal: Pereira, A
Data de Publicação: 2018
Outros Autores: Fradinho, N, Carmo, S, de Sousa, J, Rasteiro, D, Duarte, R, Leal, MJ
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/3023
Resumo: BACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. METHODS: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed. RESULTS: Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%). CONCLUSIONS: The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.
id RCAP_8679e4eb8f698e23db4e097b0254e144
oai_identifier_str oai:repositorio.chlc.min-saude.pt:10400.17/3023
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year StudyCHLC CPRCHLC CIR PEDOrofacial CleftsPortugalMalformationsChildrenBACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. METHODS: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed. RESULTS: Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%). CONCLUSIONS: The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.Pubmed CentralRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEPereira, AFradinho, NCarmo, Sde Sousa, JRasteiro, DDuarte, RLeal, MJ2018-08-07T11:16:21Z2018-022018-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3023engPlast Reconstr Surg Glob Open. 2018 Feb 9;6(2):e1635.10.1097/GOX.0000000000001635info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:40:52Zoai:repositorio.chlc.min-saude.pt:10400.17/3023Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:20.067588Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
title Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
spellingShingle Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
Pereira, A
CHLC CPR
CHLC CIR PED
Orofacial Clefts
Portugal
Malformations
Children
title_short Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
title_full Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
title_fullStr Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
title_full_unstemmed Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
title_sort Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study
author Pereira, A
author_facet Pereira, A
Fradinho, N
Carmo, S
de Sousa, J
Rasteiro, D
Duarte, R
Leal, MJ
author_role author
author2 Fradinho, N
Carmo, S
de Sousa, J
Rasteiro, D
Duarte, R
Leal, MJ
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Pereira, A
Fradinho, N
Carmo, S
de Sousa, J
Rasteiro, D
Duarte, R
Leal, MJ
dc.subject.por.fl_str_mv CHLC CPR
CHLC CIR PED
Orofacial Clefts
Portugal
Malformations
Children
topic CHLC CPR
CHLC CIR PED
Orofacial Clefts
Portugal
Malformations
Children
description BACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. METHODS: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed. RESULTS: Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%). CONCLUSIONS: The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.
publishDate 2018
dc.date.none.fl_str_mv 2018-08-07T11:16:21Z
2018-02
2018-02-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/3023
url http://hdl.handle.net/10400.17/3023
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Plast Reconstr Surg Glob Open. 2018 Feb 9;6(2):e1635.
10.1097/GOX.0000000000001635
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 Pubmed Central
publisher.none.fl_str_mv Pubmed Central
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799131299750871040