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Pfeiffer syndrome

*Gene map locus 10q26, 8p11.2-p11.1
ACS V
ACS5
Acrocephalosyndactyly, type V
Craniofacial-skeletal-dermatologic dysplasia
Noack syndrome
[Clinical features: craniosynostosis; broad and deviated thumbs; big toes; partial syndactyly on hands and feet]
[Inheritance: autosomal dominant]

Three-year-old girl with Pfeiffer syndrome and FGFR2 cys342arg mutation
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
Pfeiffer's syndrome
American Journal of Neuroradiology
European Journal of Human Genetics
Indian Journal of Radiology and Imaging

A Case of Pfeiffer Syndrome
A Case of Pfeiffer Syndrome
A Case of Pfeiffer Syndrome
Journal of Korean Medical Science
Journal of Korean Medical Science
Journal of Korean Medical Science

A Case of Pfeiffer Syndrome
Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report
Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report
Journal of Korean Medical Science
Journal of Korean Medical Science
Journal of Korean Medical Science

Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report
Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report
Pfeiffer syndrome type 2 - case report
Journal of Korean Medical Science
Journal of Korean Medical Science
Sao Paulo Medical Journal

Pfeiffer syndrome type 2 - case report
Pfeiffer syndrome type 2 - case report
Pfeiffer syndrome type 2 - case report
Sao Paulo Medical Journal
Sao Paulo Medical Journal
Sao Paulo Medical Journal


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Edited by Aldo Campana, April 16, 2014