09 August 2021
: Case report 
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 Katsuragi1ABCDEF, Etsuko Hirose2ABCDEF, Yoshifumi Arai1ABCDEF, Yoshiro Otsuki1CDEF*, Shigeru Ohki2BCDE, Hiroshi Kobayashi13ACDEFDOI: 10.12659/AJCR.932450
Am J Case Rep 2021; 22:e932450
Figure 1. (A) Frontal and (B) lateral 3-dimensional (3D) volume-rendered computed tomography (CT) images of the skull show a cloverleaf configuration with fused bilateral coronal sutures, and a hypoplastic maxilla, which appears relatively small compared with the mandible. (C, D) The thumbs are medially deviated (schema of right hand; dashed lines=thumb bones). (E, F) Metaphyses of the long bones are not yet closed. Micromelia and ankyloses of the elbows are noted.([A, B] 3D volume-rendered CT at 5 months; [C, E] radiographs at birth; [D, F] photographs at autopsy.)