Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects.
Synopsis
agenesis of the corpus callosum
telecanthus
small palpebral fissures
Pierre-Robin sequence
abnormal ears
cardiac malformations
severe respiratory failure
pulmonary immaturity
intestinal dysmotility (12884435)
- defect of smooth muscle cells in the longitudinal muscle coat of the intestinal musculature (12884435)
References
Kataoka TR, Ito A, Nakabori T, Koma Y, Nakai H, Kamata S, Kitamura Y. Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus. Am J Med Genet A. 2003 Aug 1;120A(4):537-41. PMID: 12884435