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Progressive subglottic stenosis in a child with P allister‐ K illian syndrome
Author(s) -
Shiohama Tadashi,
Fujii Katsunori,
Shimizu Kenji,
Ohashi Hirofumi,
Takatani Tomozumi,
Okamoto Nobuhiko,
Nishimura Gen,
Kato Mitsuhiro,
Shimojo Naoki
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12240
Subject(s) - subglottic stenosis , apert syndrome , medicine , isochromosome , diaphragmatic hernia , stenosis , surgery , genetics , hernia , craniosynostosis , biology , chromosome , gene , karyotype
ABSTRACT Pallister‐ K illian syndrome ( PKS ) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.