References

 1. Ireland, M., English, C., Cross, I., Houlsby, W. T., & Burn, J. (1991). A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange Syndrome. Journal of Medical Genetics, 28, 639-640.

 2. Ireland, M., English, C., Cross, I., Lindsay, S., & Strachan, T. (1995). Partial trisomy-3q and the mild Cornelia-de-Lange-Syndrome phenotype. Journal of Medical Genetics, 32, 837-838.

 3. Krantz, I. D., Tonkin, E., Smith, M., Devoto, M., Bottani, A., Simpson, C., Hofreiter, M., Abraham, V., Jukofsky, L., Conti, B. P., Strachan, T., & Jackson, L. (2001). Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome. American Journal of Medical Genetics, 15, 120- 129.

 4. Ireland, M., Donnai, D., & Burn, J. (1993). Brachmann-deLange Syndrome - delineation of the clinical phenotype. American Journal of Medical Genetics, 47, 959-964.

 5. Hawley, P. P., Jackson, L. G., & Kurnit, D. M. (1985). 64 patients with Brachmann-de-Lange Syndrome - a survey. American Journal of Medical Genetics, 20, 453-459.

 6. Jackson, L., Kline, A. D., Barr, M. A., & Koch, S. (1993). De Lange-Syndrome - a clinical review of 310 individuals. American Journal of Medical Genetics, 47, 940-946.

 7. Kline, A. D., Stanley, C., Belevich, J., Brodsky, K., Barr, M., & Jackson, L. G. (1993). Developmentaldata on individuals with the Brachmann-delange Syndrome. American Journal of Medical Genetics, 47, 1053-1058.

 8. Kousseff, b. G., Thomsonmeares, J., Newkirk, P., & Root, A. W. (1993). Physical growth in Brachmanndelange Syndrome. American Journal of Medical Genetics, 47, 1050-1052.

 9. Ptacek, L., Opitz, J., Smith, D., Gerritsen, T., & Waisman, H. (1963). The Cornelia de Lange Syndrome. The Journal of Pediatrics, 63, 1000- 1019.

 10. Kousseff, B. G., Newkirk, P., & Root, A. W. (1994). Brachmann-delange-Syndrome - 1994 update. Archives of Pediatrics and Adolescent Medicine, 148, 749-755.

 11. Jervis, G., & Stimson, C. (1963). De Lange Syndrome. The Journal of Pediatrics, 63, 634-644.

 12. Evidence from clinical interviews with parents and carers of people with Cornelia de Lange Syndrome.

 13. Beck, B. (1987). Psycho-social assessment of 36 de Lange patients. Journal of Mental Deficiency Research, 31, 251-257.

 14. Clericuzio, C. L. (1993). Mild mental retardation with classic somatic phenotype in the Brachmann de Lange Syndrome. American Journal of Medical Genetics, 47, 992-994.

 15. McIntire, M., & Eisen, J. (1965). The Cornelia de Lange Syndrome - A case report with mild mental retardation. American Journal of Mental Deficiency, 70, 438-442.

 16. Moeschler, J. B., & Graham, J. M. (1993). Mild Brachmann-de Lange Syndrome - phenotypic and developmental characteristics of mildly affected individuals. American Journal of Medical Genetics, 47, 969-976.

 17. Rojahn, J. (1984). The self-injurious behavior in institutionalized, severely / profoundly retarded adults: Prevalence and staff agreement. Journal of Behavioral Assessment, 6, 13-27.

 18. Schroeder, S. R., Schroeder, C. S., Smith, B., & Dalldorf, J. (1978). Prevalence of self-injurious behaviors in a large scale facility for the retarded: a three year follow-up study. Journal of Autism and Childhood Schizophrenia, 8, 261-269.

 19. Stefanatos, G. A., & Musikoff, H. (1994). Specific neurocognitive deficits in Cornelia de Lange Syndrome. Developmental and Behavioral Pediatrics, 15, 39-42.

 20. Berney, T. P., Ireland, M., & Burn, J. (1999). Behavioural phenotype of Cornelia de Lange Syndrome. Archives of Disease in Childhood, 81, 333-336.

 21. Goodban, M. T. (1993). Survey of speech and language- skills with prognostic indicators in 116 patients with Cornelia de Lange Syndrome. American Journal of Medical Genetics, 47, 1059- 1063.

 22. Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia-de-Lange Syndrome. Journal of Intellectual Disability Research, 41, 70-75.

 23. Sarimski, K. (2002). Analysis of intentional communication in severely handicapped children with Cornelia de Lange Syndrome. Journal of Communication Disorders, 35, 483-500.

 24. Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange Syndrome. American Journal on Mental Retardation, 107, 146-154.

 25. Johnson, H., Ekman, P., Friesen, W., Nyhan, W., & Shear, C. (1976). A behavioral phenotype in the de Lange Syndrome. Pediatric Research, 10, 843-850.

 26. Singh, N., & Pulman, R. (1979). Self-injury in the de Lange Syndrome. Journal of Mental Deficiency Research, 23, 79.

 27. Shear, C., Nyhan, W., Kirman, B., & Stern, J. (1971). Self-mutilative behavior as a feature of the de Lange Syndrome. The Journal of Pediatrics, 78, 506-508.

 28. Bryson, Y., Sakati, N., Nyhan, W., & Fish, C. (1971). Self-mutilative behavior in the Cornelia de Lange Syndrome. American Journal of Mental Deficiency, 76, 319-324.

 29. Greenberg, A. & Coleman, M. (1973). Depressed whole blood serotonin levels associated with behavioural abnormalities in the de Lange Syndrome. Pediatrics, 52, 720-724.

 30. Ando, H. & Yoshimura, I. (1978). Prevalence of maladaptive behavior in retarded children as a function of IQ and age. Journal of Abnormal Child Psychology, 6, 345-349.

 31. De Lissovoy, V. (1963). Head banging in early childhood: A suggested cause. Journal of Genetic Psychology, 102, 109-114.

 32. Kline, A. D., Krantz, I., Goldstein, A., Koo, B., & Jackson, L. G. (2001). Cornelia de Lange Syndrome: Evidence for a sensory neuropathy. American Journal of Human Genetics, 69, 567.

 33. King, B. (1993). Self-injury by people with mental retardation: A compulsive behavior hypothesis. American Journal on Mental Retardation, 98, 93- 112.

Chris Oliver

by Chris Oliver Jo Moss Jane Petty Kate Arron Jenny Sloneem Scott Hall

Source:

on behalf of the Cornelia de Lange Syndrome Foundation, published on 20 jun. 2003

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Laatst gewijzigd door Gerritjan Koekkoek op 2023/07/14 08:53

Gemaakt door Gerritjan Koekkoek op 2021/05/23 20:04