Progressive subglottic stenosis in a child with Pallister‐Killian syndrome |
| |
| Authors: | Tadashi Shiohama Katsunori Fujii Kenji Shimizu Hirofumi Ohashi Tomozumi Takatani Nobuhiko Okamoto Gen Nishimura Mitsuhiro Kato Naoki Shimojo |
| |
| Affiliation: | 1. Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan;2. Divsion of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan;3. Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan;4. Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan;5. Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan |
| |
| Abstract: | ![]()
Pallister‐Killian 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. |
| |
| Keywords: | buccal mucosal FISH Pallister‐Killian syndrome polymicrogyria subglottic stenosis tetrasomy 12p |
|
|
