Toriello–Carey syndrome associated with respiratory failure and non‐mechanical ileus

• Published in: American journal of medical genetics. Part A Vol. 120A; no. 4; pp. 537 - 541
• Main Authors: Kataoka, Tatsuki R., Ito, Akihiko, Nakabori, Tasuku, Koma, Yu‐ichiro, Nakai, Hiroshi, Kamata, Shinkichi, Kitamura, Yukihiko
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2003
• Subjects: Abnormalities, Multiple - pathology; Agenesis of Corpus Callosum; agenesis of the corpus callosum; Fatal Outcome; Female; Humans; Ileus - pathology; Infant; intestinal immaturity; Intestine, Small - pathology; Intestine, Small - ultrastructure; Lung - pathology; Lung - ultrastructure; lung immaturity; Magnetic Resonance Imaging; Male; Respiratory Insufficiency - pathology; Robin sequence; Syndrome; Toriello–Carey syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20094

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. © 2003 Wiley‐Liss, Inc.