Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care
Issued Date
2022-06-01
Resource Type
ISSN
10556656
eISSN
15451569
Scopus ID
2-s2.0-85109649630
Pubmed ID
34238036
Journal Title
Cleft Palate-Craniofacial Journal
Volume
59
Issue
6
Start Page
817
End Page
820
Rights Holder(s)
SCOPUS
Bibliographic Citation
Cleft Palate-Craniofacial Journal Vol.59 No.6 (2022) , 817-820
Suggested Citation
Chaisrisawadisuk S., Moore M.H. Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care. Cleft Palate-Craniofacial Journal Vol.59 No.6 (2022) , 817-820. 820. doi:10.1177/10556656211028505 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/84443
Title
Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care
Author(s)
Author's Affiliation
Other Contributor(s)
Abstract
Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.