title: A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Amagasaki, Hyogo, Japan. n_yokoo@f7.dion.ne.jp
authors.forename: Noritaka
authors.initials: N
authors.lastname: Yokoo
authors.forename: Chieko
authors.initials: C
authors.lastname: Marumo
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Nishida
authors.forename: Jun
authors.initials: J
authors.lastname: Iio
authors.forename: Shinji
authors.initials: S
authors.lastname: Maeda
authors.forename: Michiko
authors.initials: M
authors.lastname: Nonaka
authors.forename: Toshiro
authors.initials: T
authors.lastname: Maihara
authors.forename: Satoru
authors.initials: S
authors.lastname: Chujoh
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Katayama
authors.forename: Hisanori
authors.initials: H
authors.lastname: Sakazaki
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D003251:Constriction, Pathologic / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D019066:Facies; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014132:Trachea / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000175:diagnosis*
keywords: Pierre Robin sequence; Toriello-Carey syndrome; congenital tracheal stenosis; corpus callosum agenesis; single nucleotide polymorphism array