Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus

American Journal of Medical Genetics

Volumn 120 A, Issue 4, 2003, Pages 537-541

  Kataoka, Tatsuki R ^a   Ito, Akihiko ^a   Nakabori, Tasuku ^a   Koma, Yu Ichiro ^a   Nakai, Hiroshi ^a   Kamata, Shinkichi ^a   Kitamura, Yukihiko ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Agenesis of the corpus callosum; Intestinal immaturity; Lung immaturity; Robin sequence; Toriello Carey syndrome

Indexed keywords

ARTICLE; AUTOPSY; BRONCHOMALACIA; CASE REPORT; CONGENITAL HEART DISEASE; CORPUS CALLOSUM AGENESIS; EAR MALFORMATION; GASTROINTESTINAL RADIOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HISTOLOGY; HUMAN; ILEUS; IMMATURITY; INFANT; LUNG DEVELOPMENT; MALE; MULTIPLE MALFORMATION SYNDROME; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; RESPIRATORY FAILURE; TELECANTHUS; TORIELLO CAREY SYNDROME;

ERETMOCHELYS IMBRICATA;

EID: 0041823294     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20094     Document Type: Article

References (23)

1. Aftimos S, McGaughran J. 2001. Toriello-Carey syndrome: Case report with additional findings. Am J Med Genet 98:273-276.
2. Alawadhi A, Chou S, Carpenter B. 1989. Segmental agenesis of intestinal muscularis: A case report. J Pediatr Surg 24:1089-1090.
3. Camera G, Righi E, Romagnoli G. 1993. Toriello-Carey syndrome: Report of a new case. Clin Dysmorphol 2:260-263.
4. Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K. 1999. Two sisters with Toriello-Carey syndrome. Am J Med Genet 87: 262-264.
5. Czarnecki P, Lacombe D, Weiss L. 1996. Toriello-Carey syndrome: Evidence for X-linked inheritance. Am J Med Genet 65:291-294.
6. Huang S-F, Vacanti J, Kozakewich H. 1996. Segmental defect of the intestinal musculature of a newborn: Evidence of acquired pathogenesis. J Pediatr Surg 31:721-725.
7. Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G. 1993. Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome? Am J Med Genet 47: 299-302.
8. Joubert M, Eisenring JJ, Robb JP, Andermann F. 1969. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813-825.
9. Kosaki K, Curry CJ, Roeder E, Jones KL. 1997. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet 68:421-427.
10. Lacombe D, Creusot G, Battin J. 1992. New case of Toriello-Carey syndrome. Am J Med Genet 42:374-376.
11. Langston C, Kida K, Reed M, Thurlbeck WM. 1984. Human lung growth in late gestation and in the neonate. Am Rev Respir Dis 129:607-613.
12. McCarthy DW, Qualman S, Besner GE. 1994. Absent intestinal musculature: Anatomic evidence of an embryonic origin of the legion. J Pediatr Surg 29:1476-1478.
13. Merkus PJFM, ten Have-Opbroek AAW, Quanjer PH. 1996. Human lung growth: A review. Pediatr Pulmonol 21:383-397.
14. Nakamura Y, Harada K, Yamamoto I, Uemura Y, Okamoto K, Fukuda S, Hashimoto T. 1992. Human pulmonary hypoplasia. Arch Pathol Lab Med 116:635-642.
15. Ohta H, Masuno M, Kimura J, Imaizumi K, Kuroki Y, Yasui S, Aida N, Tanaka Y. 1999. Toriello-Carey syndrome with endocardial fibroelastosis. Am J Med Genet 87:271-272.
16. Page DV, Stocker JT. 1982. Anomalies associated with pulmonary hypoplasia. Am Rev Respir Dis 125:216-221.
17. Puri P, Lake BD, Gorman F, O'Donnell B, Nixon HH. 1983. Megacystis-microcolon-intestinal hypoperistalsis syndrome: A visceral myopathy. J Pediatr Surg 18:64-69.
18. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. 1987. Dandy-Walker (like) malformation, atrio-ventricular septal defect, and a similar pattern of minor anomalies in 2 sisters: A new syndrome? Am J Med Genet 26:481-491.
19. Saraiva JM, Baraister M. 1992. Joubert syndrome: A review. Am J Med Genet 43:726-731.
20. Till M, Bourgeois J, Plauchu H. 1997. Toriello-Carey syndrome. Am J Med Genet 70:332.
21. Toriello HV, Carey JC. 1988. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome? Am J Med Genet 31:17-23.
22. Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F. 1989. 3C syndrome: Third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet 35:205-208.
23. Wegner KJ, Hersh JA. 2001. Toriello-Carey syndrome: An additional case and summary of previously reported cases. Clin Dysmorphol 10:145-148.