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Congenital tracheal stenosis in Pfeiffer syndrome
Author(s) -
Stone Pamela,
Trevenen Cynthia L.,
Mitchell Ian,
Rudd Noreen
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03563.x
Subject(s) - crouzon syndrome , abnormality , medicine , tracheal stenosis , stenosis , pediatrics , airway , chromosomal abnormality , anatomy , surgery , biology , genetics , craniosynostosis , karyotype , psychiatry , gene , chromosome
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.