Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas

Detalhes bibliográficos
Autor(a) principal: Verona, Leonardo Lima
Data de Publicação: 2006
Outros Autores: Damian, Nicholas Godoy Canazza, Pavarina, Lucimara P., Ferreira, Cristina H. F., Melo, Débora Gusmão [UNIFESP]
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.2223/JPED.1441
http://repositorio.unifesp.br/handle/11600/2927
Resumo: OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.
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spelling Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticasMonozygotic twins discordant for Goldenhar syndromeGoldenhar syndrometwinningdiagnosisSíndrome de GoldenhargemelaridadediagnósticoOBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.OBJETIVO: Relatar um par de gêmeas monozigóticas, no qual uma das crianças é afetada pela síndrome de Goldenhar, enquanto a outra é saudável. DESCRIÇÃO: Paciente do sexo feminino, filha de pais sadios, jovens e não consangüíneos. A propósita nasceu de parto cesáreo pré-termo com Capurro somático de 35 semanas e 2 dias, pesando 2.170 g, com 42,5 cm de comprimento, perímetro cefálico de 30 cm e Apgar 3/7. Ao nascimento, a criança evoluiu com desconforto respiratório grave, sendo transferida para unidade de tratamento intensivo neonatal. A outra gemelar nasceu com 3.200 g, 49 cm de comprimento, 34 cm de perímetro cefálico e Apgar 8/10. Foi transferida junto com a mãe para o alojamento conjunto da maternidade e recebeu alta com 2 dias de vida. A criança afetada apresentava hipoplasia facial esquerda, micrognatia importante, displasia de pavilhão auricular e apêndices pré-auriculares bilaterais e dermóide epibulbar à direita. Evoluiu com apnéia obstrutiva, em conseqüência da micrognatia, e necessitou de traqueostomia. As ultra-sonografias de crânio e abdome foram normais, a radiografia de coluna total mostrou hemivértebra em T9/T10, o ecocardiograma detectou tetralogia de Fallot, e o cariótipo realizado a partir de linfócitos de sangue periférico com bandeamento GTG foi 46,XX. A avaliação oftalmológica foi normal. O exame molecular provou tratar-se de gêmeas monozigóticas com 99,99% de probabilidade. COMENTÁRIO: A clínica e os exames complementares levaram ao diagnóstico de síndrome de Goldenhar. Existem relatos de gemelares afetados por essa condição com expressividade variável, o que corrobora a hipótese de que a etiologia não é puramente genética, mas resultado de um processo de disrupção vascular no período de morfogênese.Centro Universitário Barão de Mauá Faculdade de MedicinaHospital Santa Casa de Misericórdia de Ribeirão PretoUniversidade Federal de São Paulo (UNIFESP)UNIFESP, EPM, Sao Paulo, BrazilSciELOSociedade Brasileira de PediatriaCentro Universitário Barão de Mauá Faculdade de MedicinaHospital Santa Casa de Misericórdia de Ribeirão PretoUniversidade Federal de São Paulo (UNIFESP)Verona, Leonardo LimaDamian, Nicholas Godoy CanazzaPavarina, Lucimara P.Ferreira, Cristina H. F.Melo, Débora Gusmão [UNIFESP]2015-06-14T13:31:58Z2015-06-14T13:31:58Z2006-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion75-78application/pdfhttp://dx.doi.org/10.2223/JPED.1441Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006.10.2223/JPED.1441S0021-75572006000100015.pdf0021-7557S0021-75572006000100015http://repositorio.unifesp.br/handle/11600/2927porJornal de Pediatriainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-10-10T10:58:58Zoai:repositorio.unifesp.br/:11600/2927Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-10-10T10:58:58Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
Monozygotic twins discordant for Goldenhar syndrome
title Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
spellingShingle Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
Verona, Leonardo Lima
Goldenhar syndrome
twinning
diagnosis
Síndrome de Goldenhar
gemelaridade
diagnóstico
title_short Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
title_full Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
title_fullStr Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
title_full_unstemmed Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
title_sort Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
author Verona, Leonardo Lima
author_facet Verona, Leonardo Lima
Damian, Nicholas Godoy Canazza
Pavarina, Lucimara P.
Ferreira, Cristina H. F.
Melo, Débora Gusmão [UNIFESP]
author_role author
author2 Damian, Nicholas Godoy Canazza
Pavarina, Lucimara P.
Ferreira, Cristina H. F.
Melo, Débora Gusmão [UNIFESP]
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Centro Universitário Barão de Mauá Faculdade de Medicina
Hospital Santa Casa de Misericórdia de Ribeirão Preto
Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Verona, Leonardo Lima
Damian, Nicholas Godoy Canazza
Pavarina, Lucimara P.
Ferreira, Cristina H. F.
Melo, Débora Gusmão [UNIFESP]
dc.subject.por.fl_str_mv Goldenhar syndrome
twinning
diagnosis
Síndrome de Goldenhar
gemelaridade
diagnóstico
topic Goldenhar syndrome
twinning
diagnosis
Síndrome de Goldenhar
gemelaridade
diagnóstico
description OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.
publishDate 2006
dc.date.none.fl_str_mv 2006-02-01
2015-06-14T13:31:58Z
2015-06-14T13:31:58Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.2223/JPED.1441
Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006.
10.2223/JPED.1441
S0021-75572006000100015.pdf
0021-7557
S0021-75572006000100015
http://repositorio.unifesp.br/handle/11600/2927
url http://dx.doi.org/10.2223/JPED.1441
http://repositorio.unifesp.br/handle/11600/2927
identifier_str_mv Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006.
10.2223/JPED.1441
S0021-75572006000100015.pdf
0021-7557
S0021-75572006000100015
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Jornal de Pediatria
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 75-78
application/pdf
dc.publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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