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Published on: January 17, 2011
Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus
Tatsuki R Kataoka1, Akihiko Ito, Tasuku Nakabori
1Department of Pathology, Osaka University Medical School/Graduate School of Frontier Bioscience, Suita, Osaka, Japan.
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.
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