09 August 2021>: Articles
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 A , Etsuko Hirose A , Yoshifumi Arai A , Yoshiro Otsuki C* , Shigeru Ohki B , Hiroshi Kobayashi ADOI: 10.12659/AJCR.932450
Am J Case Rep 2021; 22:e932450
Table 1. Clinicogenetic subtypes of Pfeiffer syndrome.
PS type 1 | PS type 2 | PS type 3 | |
---|---|---|---|
Gene | FGFR2 (95%), FGFR1 (5%) | FGFR2 | FGFR2 |
Inheritance pattern | Autosomal dominant | Sporadic to date | Sporadic to date |
Face | Turribrachycephaly, proptosis, midface retrusion | Cloverleaf skull, external strabismus, extreme proptosis, midface retrusion | Turribrachycephaly, significant proptosis, midface retrusion |
TCS | – | + | + |
DigitThumbs/handsGreat toes/feet | Broad, medially deviated/variable brachydactylyBroad, medially deviated/variable brachydactyly (Occasional soft-tissue syndactyly) | ||
Modified from Cohen [] and Wegener []. |