Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Amagasaki, Hyogo, Japan.
Am J Med Genet A. 2013 Sep;161A(9):2291-3. doi: 10.1002/ajmg.a.35861. Epub 2013 Jul 19.
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988]. In addition, tracheal and laryngeal anomalies are common complications in patients with Toriello-Carey syndrome, and these anomalies can lead to death [Kataoka et al., 2003]. Congenital tracheal stenosis is a life-threatening condition with high mortality. Even if surgery is successful, several serious complications can result in a high risk of mortality. We describe a case of a Japanese boy with Toriello-Carey syndrome who had severe congenital tracheal stenosis, in whom surgical tracheal plasty was avoided because of adequate respiratory care, allowing the patient to be alive at 18 months of age.
图里奥-卡里综合征是一种罕见的疾病，其特征为胼胝体发育不全、皮埃尔-罗宾序列以及面部分离性异常，如内眦赘皮、短睑裂和小鼻伴有前鼻孔外翻[Toriello 和 Carey, 1988]。此外，气管和喉异常是图里奥-卡里综合征患者常见的并发症，这些异常可导致死亡[Kataoka 等人, 2003]。先天性气管狭窄是一种危及生命的疾病，死亡率很高。即使手术成功，也可能会出现几种严重的并发症，导致死亡率很高。我们描述了一例患有图里奥-卡里综合征的日本男孩，他患有严重的先天性气管狭窄，由于充分的呼吸护理，避免了手术气管成形术，使患者在 18 个月时仍然存活。
