Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade
Cri Du Chat Syndrome (SCDC) is a genetic syndrome that must be recognized and diagnosed as soon as possible for early follow-up and multidisciplinary intervention. We describe the case of a female newborn who was suspected at SCDC at delivery room due to high-pitched crying and facial asymmetry. We...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Pediatria
2023-12-01
|
Series: | Residência Pediátrica |
Subjects: | |
Online Access: | https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4aop671.pdf |
_version_ | 1827288125903208448 |
---|---|
author | Layssa Marinho Aguiar Carlos Alberto Moreno Zaconeta Tatiane Martins Barcelos Aldo Roberto Ferrini Filho |
author_facet | Layssa Marinho Aguiar Carlos Alberto Moreno Zaconeta Tatiane Martins Barcelos Aldo Roberto Ferrini Filho |
author_sort | Layssa Marinho Aguiar |
collection | DOAJ |
description | Cri Du Chat Syndrome (SCDC) is a genetic syndrome that must be recognized and diagnosed as soon as possible for early follow-up and multidisciplinary intervention. We describe the case of a female newborn who was suspected at SCDC at delivery room due to high-pitched crying and facial asymmetry. We also describe the investigation until the final diagnosis and the clinical evolution up to nine months of age of the child. After the diagnosis was confirmed, our pacient received hospital discharge with follow-up of multidisciplinary team in order to reduce development impairments. |
first_indexed | 2024-04-24T11:25:33Z |
format | Article |
id | doaj.art-5e1a8779ed974aefbdbece1038d16545 |
institution | Directory Open Access Journal |
issn | 2236-6814 |
language | English |
last_indexed | 2024-04-24T11:25:33Z |
publishDate | 2023-12-01 |
publisher | Sociedade Brasileira de Pediatria |
record_format | Article |
series | Residência Pediátrica |
spelling | doaj.art-5e1a8779ed974aefbdbece1038d165452024-04-10T18:06:54ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142023-12-0113410.25060/residpediatr-2023.v13n4-671Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idadeLayssa Marinho Aguiar0Carlos Alberto Moreno Zaconeta1Tatiane Martins Barcelos2Aldo Roberto Ferrini Filho3Hospital Materno Infantil de Brasília, Departamento de Neonatologia - Brasília - Distrito Federal - BrasilHospital Materno Infantil de Brasília, Departamento de Neonatologia - Brasília - Distrito Federal - BrasilHospital Materno Infantil de Brasília, Departamento de Neonatologia - Brasília - Distrito Federal - BrasilHospital Materno Infantil de Brasília, Departamento de Neonatologia - Brasília - Distrito Federal - BrasilCri Du Chat Syndrome (SCDC) is a genetic syndrome that must be recognized and diagnosed as soon as possible for early follow-up and multidisciplinary intervention. We describe the case of a female newborn who was suspected at SCDC at delivery room due to high-pitched crying and facial asymmetry. We also describe the investigation until the final diagnosis and the clinical evolution up to nine months of age of the child. After the diagnosis was confirmed, our pacient received hospital discharge with follow-up of multidisciplinary team in order to reduce development impairments.https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4aop671.pdfcri-du-chat syndromechromosome deletionmicrocephaly |
spellingShingle | Layssa Marinho Aguiar Carlos Alberto Moreno Zaconeta Tatiane Martins Barcelos Aldo Roberto Ferrini Filho Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade Residência Pediátrica cri-du-chat syndrome chromosome deletion microcephaly |
title | Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade |
title_full | Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade |
title_fullStr | Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade |
title_full_unstemmed | Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade |
title_short | Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade |
title_sort | sindrome cri du chat relato de um caso neonatal e evolucao ate os nove meses de idade |
topic | cri-du-chat syndrome chromosome deletion microcephaly |
url | https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4aop671.pdf |
work_keys_str_mv | AT layssamarinhoaguiar sindromecriduchatrelatodeumcasoneonataleevolucaoateosnovemesesdeidade AT carlosalbertomorenozaconeta sindromecriduchatrelatodeumcasoneonataleevolucaoateosnovemesesdeidade AT tatianemartinsbarcelos sindromecriduchatrelatodeumcasoneonataleevolucaoateosnovemesesdeidade AT aldorobertoferrinifilho sindromecriduchatrelatodeumcasoneonataleevolucaoateosnovemesesdeidade |