Xie Lulu, Luo Xianqiong, Yang Jie, Wang Junping, Nie Chuan, Wang Zhu
NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
Am J Med Genet A. 2017 Mar;173(3):721-726. doi: 10.1002/ajmg.a.38009. Epub 2016 Oct 17.
Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T-CS is unknown, although there have been reports of patients with a clinical diagnosis of T-CS and a chromosome anomaly. We describe another such patient who was found to have an interstitial deletion of 3q (3q12.1-q21.3). © 2016 Wiley Periodicals, Inc.
托列洛-凯里综合征（T-CS）最早由托列洛和凯里描述，是一种罕见的多发性先天性异常综合征，其特征为胼胝体发育不全、皮埃尔·罗宾序列征、特殊面容及其他异常。气管或喉部异常被报道为T-CS的常见表现。这些异常可导致呼吸窘迫和呼吸道感染。尽管有临床诊断为T-CS且伴有染色体异常的患者报道，但T-CS的病因尚不清楚。我们描述了另一例此类患者，该患者被发现存在3号染色体长臂（3q12.1-q21.3）的间质性缺失。© 2016威利期刊公司
