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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2022
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| 在線閱讀: | https://repository.li.mahidol.ac.th/handle/123456789/73797 |
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