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

Shin-ya Katsuragi; Etsuko Hirose; Yoshifumi Arai; Yoshiro Otsuki; Shigeru Ohki; Hiroshi Kobayashi

doi:10.12659/AJCR.932450

09 August 2021 : Case report Japan

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

Rare disease

Shin-ya Katsuragi^1ABCDEF, Etsuko Hirose^2ABCDEF, Yoshifumi Arai^1ABCDEF, Yoshiro Otsuki^1CDEF*, Shigeru Ohki^2BCDE, Hiroshi Kobayashi^13ACDEF

DOI: 10.12659/AJCR.932450

Am J Case Rep 2021; 22:e932450

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Figure 3. (A) Dilated bronchi are found at the hilar areas of the lungs (photograph of cut surfaces of bilateral lungs). (B) Irregularly overlapping and non-fused cartilages of various sizes and shapes surround the bronchi (hematoxylin and eosin staining [H&E], low-magnification view of the lung, adjacent to bronchi). (C) Mixed foci of old and new bronchopneumonia are found (H&E, low magnification of the lung).

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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

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