Paediatric presentation of type 2 neurofibromatosis

Archives of Disease in Childhood

Volumn 81, Issue 6, 1999, Pages 496-499

  Evans, D G R ^a   Birch, J M ^b   Ramsden, R T ^c  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Facial paralysis; Meningioma; Neurofibromatosis type 2; Schwannoma

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAFE AU LAIT SPOT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE PREDISPOSITION; FAMILY HISTORY; FEMALE; HUMAN; INFANT; MALE; MEDICAL ASSESSMENT; MENINGIOMA; NEURILEMOMA; NEUROFIBROMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0032730964     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.81.6.496     Document Type: Article

References (24)

1. 1 Wishart JH. Case of tumours in the skull, dura mater, and brain. Edinburgh Med Surg J 1820;18:393-7.
2. 2 Von Recklinghausen F. Ueber die multiplen Fibroma der Haut und ihre Beziehung zu den multiplen Neuromen. Berlin: A Hirschwald, 1882.
3. 3 Cushing H. Tumors of the nervus acusticus and the syndrome of the cerebello-pontile angle. Philadelphia: WB Saunders, 1917.
4. 4 Rouleau G, Seizinger BR, Ozelius LG, et al. Genetic linkage analysis of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246-8.
5. 5 Seizinger BR, Rouleau GA, Ozelius LG, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987;49:589-94.
6. 6 National Institutes of Health Consensus Development Conference Statement on Neurofibromatosis. Neurofibromatosis Research Newsletter 1987;3:3-6.
7. 7 Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis; a clinical population based study in south east Wales. Brain 1986;111:1355-81.
8. 8 McGaughran J, Harris DI, Donnai D, et al. A clinical study of type 1 neurofibromatosis in north west England. J Med Genet 1999;36:197-203.
9. 9 Evans DGR, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the north west of England and the UK: I prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 1992;29:841-6.
10. 10 Evans DGR, Huson S, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992;84:603-18.
11. 11 Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450-1.
12. 12 Parry DM, MacCollin M, Kaiser-Kupfer MI, et al. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 1996;59:529-39.
13. 13 Ruttledge MH, Andermann AA, Phelan CM, et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996;59:331-42.
14. 14 Evans DGR, Trueman L, Wallace A, Mason S, Strachan T. Genotype phenotype correlations in type 2 neurofibromatosis: evidence for more severe disease with truncating mutations. J Med Genet 1998;35:450-5.
15. 15 Kluwe L, Bayer S, Baser ME, et al. Identification of NF2 germline mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 1996;98:534-38.
16. 16 Evans DGR, Wallace A, Trueman L, Wu C-L, Ramsden RT, Strachan T. Mosaicism in classical neurofibromatosis type 2: a common mechanism for sporadic disease in tumor prone syndromes? Am J Hum Genet 1998;63:727-36.
17. 17 Kluwe L, Mautner VF. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 1998;7:2051-5.
18. 18 Evans DGR, Ramsden R, Huson SM, Harris R, Lye R, King TT. Type 2 neurofibromatosis: the need for supraregional care? J Laryngol Otol 1993;107:401-6.
19. 19 Miyamato MT, Campbell RL, Fritsch M, Lochmueller G. Preservation of hearing in neurofibromatosis 2. Otolaryngol Head Neck Surg 1990;103:619-24.
20. 20 Slattery WH, Brackmann DE, Hitselberger W. Hearing preservation in neurofibromatosis type 2. Am J Otol 1998; 19:638-43.
21. 21 Evans DGR, Huson S, Donnai D, et al. A genetic study of type 2 neurofibromatosis: II guidelines for genetic counselling. J Med Genet 1992;29:847-52.
22. 22 Mautner VF, Lindenau M, Baser ME, et al. The neuro-imaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 1996;38:880-5.
23. 23 Evans DGR, Maher ER, Macleod R, Davies DR, Craufurd D. Uptake of genetic testing for cancer predisposition. J Med Genet 1997;34:746-8.
24. 24 Wu C-L, Neary W, Thakker N, et al. Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. J Med Genet 1998;35:973-7.