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- W2018549202 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." @default.
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- W2018549202 date "2003-03-26" @default.
- W2018549202 modified "2023-10-10" @default.
- W2018549202 title "Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus" @default.
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- W2018549202 doi "https://doi.org/10.1002/ajmg.a.20094" @default.
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