Article
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
The American journal of case reports - 9 Aug 2021
Katsuragi Shin-Ya, Hirose Etsuko, Arai Yoshifumi, Otsuki Yoshiro, Ohki Shigeru, Kobayashi Hiroshi
Abstract excerpt
BACKGROUND Pfeiffer syndrome (PS) is a fibroblast growth factor receptor (FGFR)-associated craniosynostosis syndrome, characterized by abnormally broad and medially deviated thumbs and great toes. Tracheal cartilage sleeve (TCS) is associated with several FGFR-associated craniosynostosis syndromes, including PS. TCS is an airway malformation in which the tracheal cartilage rings fuse with each other to form a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.