title: Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome.
abstract: 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.
authors.affiliation: Department of Premature and Neonatal Medicine, Iwaki Kyoritsu General Hospital, Iwaki, Japan; Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Ogasawara
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Honda
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Hosoya
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000628:therapy*; D007743:Labor, Obstetric; D008844:Micrognathism / Q000175:diagnosis / Q000628:therapy*; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities*
keywords: Pierre-Robin sequence; cerebro-costo-mandibular syndrome; ex utero intrapartum treatment; prenatal diagnosis