Toriello-Carey Syndrome: Delineation and Review

American Journal of Medical Genetics

Volumn 123 A, Issue 1, 2003, Pages 84-90

  Toriello, Helga V ^a,u   Carey, John C ^b   Addor, Marie Claude ^c   Allen, William ^d   Burke, Leah ^e   Chun, Nicole ^f   Dobyns, William ^g   Elias, Ellen ^h   Gallagher, Renata ^f   Hordijk, Roel ^u   Hoyme, Gene ^f   Irons, Mira ⁱ   Jewett, Tamison ^j   LeMerrer, Martine ^k   Lubinsky, Mark ^l   Martin, Rick ^m   McDonald McGinn, Donna ⁿ   Neumann, Luitgard ^o   Newman, William ^p   Pauli, Richard ^q   Seaver, Laurie ^r   Tsai, Anna ^s   Wargowsky, David ^q   Williams, Marc ^t   Zackai, Elaine ⁿ   more..

^a SPECTRUM HEALTH   (United States)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^c Responsable EUROCAT Suisse   (Switzerland)

^d Fullerton Genetics Center   (United States)

^e UNIVERSITY OF VERMONT   (United States)

^f STANFORD UNIVERSITY   (United States)

^g UNIVERSITY OF CHICAGO   (United States)

^h CHILDREN S HOSPITAL   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j WAKE FOREST UNIVERSITY HEALTH SCIENCES   (United States)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l Children's Hospital of Wisconsin   (United States)

^m ST LOUIS CHILDREN S HOSPITAL   (United States)

ⁿ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^o HUMBOLDT UNIVERSITY   (Germany)

^p ST MARY S HOSPITAL   (United Kingdom)

^q UNIVERSITY OF WISCONSIN MADISON   (United States)

^r GREENWOOD GENETIC CENTER   (United States)

^s UNIVERSITY OF COLORADO   (United States)

^t GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

^u NONE

more..

Author keywords

Corpus callosum agenesis; Pierre Robin sequence

Indexed keywords

ADOLESCENT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; FACE DYSMORPHIA; FEMALE; HUMAN; MALE; MEDICAL INFORMATICS; MEDICAL LITERATURE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; PUBLICATION; REVIEW; SYNDROME; TORIELLO CAREY SYNDROME;

ERETMOCHELYS IMBRICATA; GENETTA;

EID: 10744229576     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20493     Document Type: Review

References (19)

1. Aftimos S, McGaughran J. 2001. Toriello-Carey syndrome: Case report with additional findings. Am J Med Genet 98:273-276.
2. Barisic I, Peter B, Mikecin L. 2003. Clinical report. Further delineation of the Toriello-Carey syndrome: A report of two siblings. Am J Med Genet 116A:188-191.
3. Camera G, Righi E, Romagnoli G. 1993. Toriello-Carey syndrome: Report of a new case. Clin Dysmorph 2:260-263.
4. Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K. 1999. Brief clinical report: 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. Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP. 2000. Marden-Walker syndrome: Case report, nosologic discussion, and aspects of counseling. Genet Couns 11:111- 118.
7. Garcia-Alix A, Blanco D, Cabanas F, Sanchez PG, Pellicer A, Quero J. 1992. Early neurological manifestations and brain anomalies in Marden-Walker syndrome. Am J Med Genet 44:41-45.
8. Gorlin RJ, Hennekam R, et al. 2001. Syndromes of the Head and Neck. Cohen MM Jr, editor. New York: Oxford University Press.
9. 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.
10. Kosaki K, Curry CJ, Roeder E, Jones KL. 1997. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet 68:421-427.
11. Lacombe D, Creusot G, Battin J. 1992. New case of Toriello-Carey syndrome. Am J Med Genet 42:374-376.
12. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. 2002. "Molecular rulers" for calibating phenotypic effects of telomere imbalance. J Med Genet 39:734-740.
13. Ohta H, Masuno M, Kimura J, Imaizumi K, Kuroki Y, Yasui S, Aida N, Tanaka Y. 1999. Letter to the editor: Toriello-Carey syndrome with endocardial fibroelastosis. Am J Med Genet 87:271-272.
14. Paladini D, Russo MG, Tartaglione A, Loffredo A, Martinelli P. 2002. Prenatal ultrasound diagnosis of Toriello-Carey syndrome. Prenat Diagn 22:1185-1187.
15. Till M, Bourgeois J, Plauchu H. 1997. Letter to the editor: Toriello-Carey syndrome. Am J Med Genet 70:332.
16. 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.
17. Wegner KJ, Hersh JA. 2001. Toriello-Carey syndrome: An additional case and summary ofpreviously reported cases. Clin Dysmorph 10: 145-148.
18. Williams MS, Josephson KD, Wargowski DS. 1993. Marden-Walker syndrome: A case report and a critical review of the literature. Clin Dysmorph 2:211-219.
19. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72:590-597.