Pfeiffer Syndrome type 2--case report.Sao Paulo Med J. 2003 Jul 01; 121(4):176-9.SP
Abstract
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.
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
14595512
Citation
Oyamada, Maria Kiyoko, et al. "Pfeiffer Syndrome Type 2--case Report." Sao Paulo Medical Journal = Revista Paulista De Medicina, vol. 121, no. 4, 2003, pp. 176-9.
Oyamada MK, Ferreira HS, Hoff M. Pfeiffer Syndrome type 2--case report. Sao Paulo Med J. 2003;121(4):176-9.
Oyamada, M. K., Ferreira, H. S., & Hoff, M. (2003). Pfeiffer Syndrome type 2--case report. Sao Paulo Medical Journal = Revista Paulista De Medicina, 121(4), 176-9.
Oyamada MK, Ferreira HS, Hoff M. Pfeiffer Syndrome Type 2--case Report. Sao Paulo Med J. 2003 Jul 1;121(4):176-9. PubMed PMID: 14595512.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Pfeiffer Syndrome type 2--case report.
AU - Oyamada,Maria Kiyoko,
AU - Ferreira,Haide Salgado Alonso,
AU - Hoff,Marcelo,
Y1 - 2003/10/29/
PY - 2003/11/5/pubmed
PY - 2004/1/30/medline
PY - 2003/11/5/entrez
SP - 176
EP - 9
JF - Sao Paulo medical journal = Revista paulista de medicina
JO - Sao Paulo Med J
VL - 121
IS - 4
N2 - 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.
SN - 1516-3180
UR - https://www.unboundmedicine.com/medline/citation/14595512/Pfeiffer_Syndrome_type_2__case_report_
DB - PRIME
DP - Unbound Medicine
ER -
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.