Pfeiffer syndrome type 2: case report
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000400008 |
Resumo: | OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature. |
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Pfeiffer syndrome type 2: case reportPfeiffer syndromeCloverleaf skullCraniosynostosisSyndactylyUpper airwayEyeOBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.Associação Paulista de Medicina - APM2003-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000400008Sao Paulo Medical Journal v.121 n.4 2003reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802003000400008info:eu-repo/semantics/openAccessOyamada,Maria KiyokoFerreira,Haideé Salgado AlonsoHoff,Marceloeng2003-10-29T00:00:00Zoai:scielo:S1516-31802003000400008Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2003-10-29T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Pfeiffer syndrome type 2: case report |
title |
Pfeiffer syndrome type 2: case report |
spellingShingle |
Pfeiffer syndrome type 2: case report Oyamada,Maria Kiyoko Pfeiffer syndrome Cloverleaf skull Craniosynostosis Syndactyly Upper airway Eye |
title_short |
Pfeiffer syndrome type 2: case report |
title_full |
Pfeiffer syndrome type 2: case report |
title_fullStr |
Pfeiffer syndrome type 2: case report |
title_full_unstemmed |
Pfeiffer syndrome type 2: case report |
title_sort |
Pfeiffer syndrome type 2: case report |
author |
Oyamada,Maria Kiyoko |
author_facet |
Oyamada,Maria Kiyoko Ferreira,Haideé Salgado Alonso Hoff,Marcelo |
author_role |
author |
author2 |
Ferreira,Haideé Salgado Alonso Hoff,Marcelo |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Oyamada,Maria Kiyoko Ferreira,Haideé Salgado Alonso Hoff,Marcelo |
dc.subject.por.fl_str_mv |
Pfeiffer syndrome Cloverleaf skull Craniosynostosis Syndactyly Upper airway Eye |
topic |
Pfeiffer syndrome Cloverleaf skull Craniosynostosis Syndactyly Upper airway Eye |
description |
OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000400008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000400008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31802003000400008 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.121 n.4 2003 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209260799000576 |