Article
Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jun 2022
Chaisrisawadisuk Sarut, Moore Mark H
Abstract excerpt
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...
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