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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Yokoo, Noritaka Marumo, Chieko Nishida, Yoshinobu Iio, Jun Maeda, Shinji Nonaka, Michiko Maihara, Toshiro Chujoh, Satoru Katayama, Tetsuo Sakazaki, Hisanori Matsumoto, Naomichi Okamoto, Nobuhiko
Description	Country affiliation: Japan Author Affiliation: Yokoo N ( Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Amagasaki, Hyogo, Japan. n_yokoo@f7.dion.ne.jp)
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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	161A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2013-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Agenesis Of Corpus Callosum Diagnosis Constriction, Pathologic Craniofacial Abnormalities Heart Defects, Congenital Limb Deformities, Congenital Pierre Robin Syndrome Trachea Abnormalities Urogenital Abnormalities Brain Pathology Facies Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Phenotype Syndrome Tomography, X-ray Computed Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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