Document Detail

Pfeiffer Syndrome type 2--case report.
MedLine Citation:
PMID:  14595512     Owner:  NLM     Status:  MEDLINE    
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.
Maria Kiyoko Oyamada; Haide Salgado Alonso Ferreira; Marcelo Hoff
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2003-10-29
Journal Detail:
Title:  São Paulo medical journal = Revista paulista de medicina     Volume:  121     ISSN:  1516-3180     ISO Abbreviation:  Sao Paulo Med J     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-11-03     Completed Date:  2004-01-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  100897261     Medline TA:  Sao Paulo Med J     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  176-9     Citation Subset:  IM    
Hospital de Servidor Público Municipal de São Paulo, Brazil.
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MeSH Terms
Acrocephalosyndactylia / diagnosis*,  etiology
Diagnosis, Differential
Fatal Outcome
Infant, Newborn

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