Ogasawara Kei, Honda Yoshinobu, Hosoya Mitsuaki
Department of Premature and Neonatal Medicine, Iwaki Kyoritsu General Hospital, Iwaki, Japan; Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.
Pediatr Int. 2014 Aug;56(4):613-5. doi: 10.1111/ped.12299.
Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder characterized by multiple rib abnormalities, micrognathia described as Pierre-Robin sequence, and cerebral involvement. Appropriate management of respiratory distress immediately after birth is crucial to rescue these patients. A boy, having a mother with Pierre-Robin sequence and a sister with CCMS, was diagnosed prenatally with CCMS and successfully treated with ex utero intrapartum treatment (EXIT) at 36 weeks 6 days of gestation. EXIT would be an effective option for rescuing patients with prenatally diagnosed CCMS and preventing neonatal hypoxia.
脑-肋-下颌综合征（CCMS）是一种罕见的疾病，其特征为多发肋骨异常、被描述为皮埃尔-罗宾序列的小下颌以及脑部受累。出生后立即对呼吸窘迫进行恰当处理对于挽救这些患者至关重要。一名男孩，其母亲患有皮埃尔-罗宾序列，姐姐患有CCMS，在妊娠36周6天时产前被诊断为CCMS，并通过产时宫外治疗（EXIT）成功接受治疗。EXIT对于挽救产前诊断为CCMS的患者及预防新生儿缺氧将是一种有效的选择。
