Pfeiffer Syndrome

2006 ◽  
pp. 827-829
Keyword(s):  
Pfeiffer Syndrome

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

2016 ◽  
Vol 30 (18) ◽  
pp. 2225-2231 ◽  
Author(s):  
Antonella Giancotti ◽  
Valentina D’Ambrosio ◽  
Enrica Marchionni ◽  
Antonia Squarcella ◽  
Camilla Aliberti ◽  
...  
Keyword(s):  
Literature Review ◽  
Genetic Diagnosis ◽  
Pfeiffer Syndrome

Pfeiffer syndrome

1994 ◽  
Vol 49 (3) ◽  
pp. 357-357 ◽  
Author(s):  
Robin M. Winter
Keyword(s):  
Pfeiffer Syndrome

Prenatal diagnosis of Pfeiffer syndrome type II

2004 ◽  
Vol 24 (8) ◽  
pp. 644-646 ◽  
Author(s):  
Bettina Blaumeiser ◽  
Philip Loquet ◽  
Wim Wuyts ◽  
Markus M. Nöthen
Keyword(s):  
Prenatal Diagnosis ◽  
Syndrome Type ◽  
Type Ii ◽  
Pfeiffer Syndrome

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature

2021 ◽  
pp. 1-4
Author(s):  
Antonella Vimercati ◽  
Claudiana Olivieri ◽  
Miriam Dellino ◽  
Mattia Gentile ◽  
Raffaele Tinelli ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Three Dimensional ◽  
Review Of Literature ◽  
Pfeiffer Syndrome

scholarly journals Pfeiffer syndrome type 2: case report

2003 ◽  
Vol 121 (4) ◽  
pp. 176-179 ◽  
Author(s):  
Maria Kiyoko Oyamada ◽  
Haideé Salgado Alonso Ferreira ◽  
Marcelo Hoff
Keyword(s):  
Poor Prognosis ◽  
Recent Literature ◽  
Choanal Atresia ◽  
Early Death ◽  
Survival Outcome ◽  
Syndrome Type ◽  
Pfeiffer Syndrome ◽  
Diagnostic Characteristics

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.

scholarly journals A Case Report of Pfeiffer Syndrome with Spinal Anomaly

2009 ◽  
Vol 60 (1) ◽  
pp. 57 ◽  
Author(s):  
Chung Hee Shin ◽  
Boem-Ha Yi ◽  
Hyun Sook Hong ◽  
Hae Kyung Lee ◽  
Seong Jin Park
Keyword(s):  
Case Report ◽  
Pfeiffer Syndrome

scholarly journals Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus

AIMS Genetics ◽  
2016 ◽  
Vol 3 (4) ◽  
pp. 205-211
Author(s):  
Corinne Collet ◽  
◽  
Eric Arnaud ◽  
Federico Di Rocco ◽  
Caroline Apra
Keyword(s):  
Amino Acid ◽  
Amino Acid Residue ◽  
Pfeiffer Syndrome

Anorectal anomaly in Pfeiffer syndrome

1993 ◽  
Vol 2 (1) ◽  
pp. 28???33 ◽  
Author(s):  
H. OHASHI ◽  
H. NISHIMOTO ◽  
J. NISHIMURA ◽  
M. SATO ◽  
S. IMAIZUMI ◽  
...  
Keyword(s):  
Anorectal Anomaly ◽  
Pfeiffer Syndrome
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