title: Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus.
abstract: Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects. We report a boy who has some additional findings, including a severe respiratory failure and intestinal dysmotility. The boy died of these two disorders at age 13 months. Histological examination revealed pulmonary immaturity and a defect of smooth muscle cells in the longitudinal muscle coat of the intestinal musculature, both of which might explain some aspects of the pathophysiology of the patient.
authors.affiliation: Department of Pathology, Osaka University Medical School/Graduate School of Frontier Bioscience, Suita, Osaka, Japan.
authors.forename: Tatsuki R
authors.initials: TR
authors.lastname: Kataoka
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ito
authors.forename: Tasuku
authors.initials: T
authors.lastname: Nakabori
authors.forename: Yu-ichiro
authors.initials: Y
authors.lastname: Koma
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakai
authors.forename: Shinkichi
authors.initials: S
authors.lastname: Kamata
authors.forename: Yukihiko
authors.initials: Y
authors.lastname: Kitamura
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D045823:Ileus / Q000473:pathology*; D007223:Infant; D007421:Intestine, Small / Q000473:pathology* / Q000648:ultrastructure; D008168:Lung / Q000473:pathology / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D012131:Respiratory Insufficiency / Q000473:pathology*; D013577:Syndrome