Neurofibromatosis type 1 - An update and review for the primary pediatrician

Clinical Pediatrics

Volumn 35, Issue 11, 1996, Pages 545-561

  Goldberg, ^a   Dibbern, ^a   Klein, ^a   Riccardi, ^a   Graham, ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER RISK; CHILD CARE; CHILD DEVELOPMENT; CLINICAL FEATURE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; GENETIC COUNSELING; HUMAN; HYPERTENSION; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; PRENATAL DIAGNOSIS; SCOLIOSIS; SEX DIFFERENCE; SHORT STATURE; SYNDROME DELINEATION;

EID: 0029905849     PISSN: 00099228     EISSN: None     Source Type: Journal    
DOI: 10.1177/000992289603501101     Document Type: Article

References (31)

1. Tibbs JAR, Cohen MM. The Proteus syndrome: the Elephant Man diagnosed. Br Med J. 1986;293:683-685.
2. Huson SM, Comptson DAS, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in Southeast Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26:704-711.
3. Riccardi VM, Dobson CE, Chakraborty R, Bontke C. The pathophysiology of neurofibromatosis: IX. Paternal age effect on the origin of new mutations. Am J Med Genet. 1984; 18:169-176.
4. Jayadel D, Fain P, Upadhyaya M, et al. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature. 1990;343;558-559.
5. Lazaro C, Ravella A, Gaona A, et al. Neurofibomatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med. 1994;331:1403-1407.
6. Wu B, Austin M, Schneider G, et al. Deletion of the entire NF1 gene detected by FISH: four deletion patients associated with severe manifestations. Am J Med Genet. 1995;59:528-535.
7. Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its product, neurofibromin. Neuron. 1993;10:335-343.
8. Ballester R, Marchuk D, Boguski M, et al. The NF1 locus encodes protein functionally related to mammalian GAP and Yeast IRA proteins. Cell. 1990;63:851-859.
9. Obringer AC, Meadows AT, Zackai EH. The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child. 1989;143:717-719.
10. Riccardi VM. Type 1 neurofibromatosis and the pediatric patient. Curr Prob Pediatr. February, 1992;22:66-106.
11. Riccardi, VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981;305:1617-1626.
12. Heim RA, Silverman LM, Farber RA, et al. Screening for truncated NF1 proteins. Nature Genetics. 1994;8:218-219.
13. Arnsmeier S, Riccardi V. Familial multiple café-au-lait spots. Arch Dermatol. 1994;130:1425-1426.
14. Wiedemann HR, Gurgio GR, Aldenhoff P, et al. The Proteus syndrome. Eur J Pediatr. 1983;140:5-12.
15. Cohen MM. Proteus syndrome: clinical evidence for somatic mosaicism and selected review. Am J Med Genet. 1993;47:645-652.
16. Gopal Rao VVN, Schnittger S, Hansmann I: G protein Gs-alpha (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics. 1991;10:257-261.
17. Ishizaka I, Itoh F, Tahira T, et al. Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene. 1989;4:1519-1521.
18. Haraoka M, Naito S, Kumazawa J: Clitoral involvement by neurofibromatosis: a case report and review of the literature. J Urol. 1988;139:95-96.
19. Samuelsson B, Riccardi VM. Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise. Neurofibromatosis. 1989;2:78-83.
20. Eliason M. Neurofibromatosis: implications for learning and behavior. J Dev Behav Pediatr. 1986;7:175-179.
21. Riccardi VM. Neurofibromatosis as a model for investigating hereditary vs. enviromental factors in learning disabilities. In: Fukuyama Y, ed. The Developing Brain and Its Disorders. Tokyo: University of Tokyo Press; 1984:171-181.
22. Truhan AP, Filipek PA. Magnetic resonance imaging - its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis and Sturge-Webersyndromes. Arch Dermatol. 1993;129:219-226.
23. Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis, 2nd ed. Baltimore: The Johns Hopkins University Press; 1992.
24. Packer RJ, Sutton LN, Bilaniuk LT, et al. Treatment of chiasmatic/hypothalamic gliomas of childhood with chemotherapy. Ann Neurol. 1988;23:79-85.
25. Bader J. Neurofibromatosis and cancer: an overview. Dysmorphol Clin Genet. 1987;1:43-48.
26. Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia: world statistical analysis. Arch Dermatol. 1995;131:904-908.
27. Riccardi VM, Powell PP. Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis. Neurofibromatosis. 1989;2:152-165.
28. Weissman A, Jakobi P, Zaidise I, Drugan A. Neurofibromatosis and pregnancy: an update. J Reprod Med. 1993;38:890-896.
29. Riccardi VM. A controlled multiple trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol. 1993;129:577-581.
30. Haustein UF. Ketotifen inhibits urticaria and tumor progression in neurofibromatosis (German). Dermatol Monattsschr. 1990;175:581-584.
31. Upadhyaya M, Fryer A, MacMillan J, et al. Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. J Med Genet. 1992;29:180-183.