A case of Toriello-Carey syndrome with severe congenital tracheal stenosis

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 9; pp. 2291 - 2293
• Main Authors: Yokoo, Noritaka, Marumo, Chieko, Nishida, Yoshinobu, Iio, Jun, Maeda, Shinji, Nonaka, Michiko, Maihara, Toshiro, Chujoh, Satoru, Katayama, Tetsuo, Sakazaki, Hisanori, Matsumoto, Naomichi, Okamoto, Nobuhiko
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.09.2013; Wiley Subscription Services, Inc
• Subjects: Age; Agenesis of Corpus Callosum - diagnosis; Brain - pathology; congenital tracheal stenosis; Constriction, Pathologic - diagnosis; Corpus callosum; corpus callosum agenesis; Craniofacial Abnormalities - diagnosis; Facies; Heart Defects, Congenital - diagnosis; Humans; Infant; Infant, Newborn; Limb Deformities, Congenital - diagnosis; Magnetic Resonance Imaging; Male; Mortality; Nose; Phenotype; Pierre Robin sequence; Pierre Robin Syndrome - diagnosis; single nucleotide polymorphism array; Stenosis; Surgery; Syndrome; Tomography, X-Ray Computed; Toriello-Carey syndrome; Trachea - abnormalities; Urogenital Abnormalities - diagnosis; congenital tracheal stenosis; Toriello-Carey syndrome; single nucleotide polymorphism array; Pierre Robin sequence; corpus callosum agenesis
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35861

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. © 2013 Wiley Periodicals, Inc.