Scoliosis in velo-cardio-facial syndrome

Journal of Pediatric Orthopaedics

Volumn 22, Issue 6, 2002, Pages 780-783

  Morava, Éva ^a   Lacassie, Yves ^b   King, Andrew ^b   Illes, Tamas ^a   Marble, Michael ^b  

^a UNIVERSITY OF PÉCS   (Hungary)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Connective tissue anomaly; Microdeletion 22q11.2; Scoliosis; Velo cardio facial syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; COGNITIVE DEFECT; CONGENITAL HEART DISEASE; CONNECTIVE TISSUE DISEASE; FACE MALFORMATION; FEMALE; HUMAN; MALE; MARFAN SYNDROME; MUSCULOSKELETAL DISEASE; PALATE MALFORMATION; PRIORITY JOURNAL; SCOLIOSIS; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; RETROSPECTIVE STUDIES; SCOLIOSIS; SYNDROME;

EID: 0036839728     PISSN: 02716798     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004694-200211000-00017     Document Type: Article

References (15)

1. Burn J, Wilson DI, Cross I, et al. The clinical significance of the 22q11 deletion. In: Clark EB, Markwald RR, Takeo A, eds. Developmental Mechanism of Heart Disease. Armonk, NY: Futura Publishing, 1995:559-67.
2. Chieffo C, Garvey N, Gong W, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997;43:267-77.
3. DiGeorge AM. Discussion on a new concept of the cellular basis of immunology. J Pediatr 1965;67:907-8.
4. Farley FA, Phillips WA, Herzenberg JE, et al. Natural history of scoliosis in congenital heart disease. J Pediatr Orthop 1991;11:42-7.
5. Holder SE, Winter RM, Kamath S, et al. Velocardiofacial syndrome in a mother and daughter: Variability of the clinical pheno-type. J Med Genet 1993;30:825-7.
6. Hultman CS, Riski JE, Cohen SR, et al. Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. Plast Reconstr Surg 2000:106:16-24.
7. Jaeken J, Goemans N, Fryns JP, et al. Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: Evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 1996;19:275-7.
8. Kelly D, Goldberg R, Wilson D, et al. Confirmation that the velocardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993;45:308-12.
9. Lindsay EA, Greenberg F, Shaffer LG. et al. Submicroscopic deletions at 22q11.2 variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 1995;56:191-7.
10. Luke MJ, McDonnel EJ. Congenital heart disease and scoliosis. J Pediatr 1968;73:725-33.
11. Mehraein Y, Wippermann CF, Michel-Behnke I. et al. Microdeletion 22q11 in complex cardiovascular malformations. Hum Genet 1997;99:433-42.
12. Pollard ME, Cushing MV, Ogden JA. Musculoskeletal abnormalities in velocardiofacial syndrome. J Pediatr Orthop 1999;19:607-12.
13. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 1997;34:798-804.
14. Shprintzen RJ, Goldberg RB, Young D, et al. The velo-cardiofacial syndrome: A clinical and genetic analysis. Pediatrics 1981;67:167-72.
15. Steinberg I. A simple screening test for the Marfan syndrome. J Roentgenol 1966;97:118-24.