Congenital Tracheal Stenosis in Pfeiffer Syndrome

Overview

Journal Clin Genet

Specialty Genetics

Date 1990 Aug 1

PMID 2208766

Citations 3

Authors

P Stone

C L Trevenen

I Mitchell

N Rudd

Affiliations

Soon will be listed here.

Abstract

We report an infant with Pfeiffer syndrome (acrocephalosyndactyly type V) and a solid cartilaginous trachea lacking rings. This airway abnormality has been reported in a child with Crouzon syndrome but has not been described in Pfeiffer syndrome.

Citing 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.

Katsuragi S, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H Am J Case Rep. 2021; 22:e932450.

PMID: 34366428 PMC: 8363655. DOI: 10.12659/AJCR.932450.

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Wenger T, Dahl J, Bhoj E, Rosen A, McDonald-McGinn D, Zackai E Genet Med. 2016; 19(1):62-68.

PMID: 27228464 PMC: 5846326. DOI: 10.1038/gim.2016.60.

A case of Pfeiffer syndrome.

Park M, Yoo J, Chung J, Yoon S J Korean Med Sci. 2006; 21(2):374-8.

PMID: 16614535 PMC: 2734025. DOI: 10.3346/jkms.2006.21.2.374.