Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care

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. H...

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Bibliographic Details
Main Authors: Sarut Chaisrisawadisuk, Mark H. Moore
Other Authors: Siriraj Hospital
Format: Article
Published: 2022
Subjects:
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/73797
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Institution: Mahidol University