Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus
✍ Scribed by Kataoka, Tatsuki R. ;Ito, Akihiko ;Nakabori, Tasuku ;Koma, Yu-ichiro ;Nakai, Hiroshi ;Kamata, Shinkichi ;Kitamura, Yukihiko
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 289 KB
- Volume
- 120A
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.