Shiohama Tadashi, Fujii Katsunori, Shimizu Kenji, Ohashi Hirofumi, Takatani Tomozumi, Okamoto Nobuhiko, Nishimura Gen, Kato Mitsuhiro, Shimojo Naoki
Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
Divsion of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Congenit Anom (Kyoto). 2018 May;58(3):102-104. doi: 10.1111/cga.12240. Epub 2017 Aug 29.
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.
帕利斯特-基利安综合征（PKS）是一种罕见的遗传性疾病，由12号染色体短臂四体性镶嵌与额外的12号染色体短臂等臂染色体引起，表现为智力残疾、颅面畸形和癫痫。尽管PKS表现为多系统形态缺陷，但除膈疝外，呼吸系统受累罕见。我们首次报告了一例伴有进行性声门下狭窄的PKS病例。声门下狭窄由于严重的呼吸道梗阻和插管困难，是一种潜在的致命疾病；因此，需要进一步积累病例以评估PKS与声门下狭窄之间的因果关系。
