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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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 [].

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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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