Diagnostic delay in neurofibromatosis type 1

European Journal of Pediatrics

Volumn 156, Issue 6, 1997, Pages 482-487

  Cnossen, M H ^a   Smit, F J ^a,b   De Goede Bolder, A ^a   Frets, P G ^c   Duivenvoorden, H J ^c   Niermeijer, M F ^c  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b St Clara Hospital   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Diagnostic delay; Genetic counselling; Neurofibromatosis; Prenatal diagnosis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; GENETIC COUNSELING; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; NEUROFIBROMATOSIS; NEWBORN; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ATTITUDE TO HEALTH; CHILD; CHILD, PRESCHOOL; CONSUMER SATISFACTION; FAMILY HEALTH; FAMILY PLANNING SERVICES; FEMALE; GENETIC COUNSELING; HUMANS; INFANT; MALE; NEUROFIBROMATOSIS 1; PRENATAL DIAGNOSIS; TIME FACTORS;

EID: 0030938620     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050644     Document Type: Article

References (21)

1. Altman DG (1991) Practical statistics for medical research. Chapman and Hall, London
2. Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L (1993) Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet 30:567-574
3. Boer HH de, Verbout AJ, Nielsen HKL, Eijken JW van der (1988) Free vascularized fibular graft for tibial pseudoarthrosis in neurofibromatosis. Acta Orthop Scand 59:425-429
4. Crowe FW, Schull WT, Neel JF (1956) A clinical, pathological, and genetic study of multiple neurofibromatosis. Charles C. Thomas, Springfield, Illinois
5. Evers-Kiebooms G (1987) Decision making in Huntington's disease and cystic fibrosis In: Evers-Kiebooms G, Cassiman JJ, van den Berghe H, D'Yobwalle G (eds) Genetic risk, risk perception and decision making. Birth Defects 23:115-149
6. Frets PG, Duivenvoorden HJ, Verhage HJ, Peters-Romeyn BMT, Niermeijer MF (1990) Model identifying the reproductive decision after genetic counselling. Am J Med Genet 35:503-509
7. Hodgkinson KA, Kerzin-Storrar L, Watters EA, Harris R (1990) Adult polycystic kidney disease: knowledge, experience and altitudes to prenatal diagnosis. J Med Genet 27:552-558
8. Hofman KJ, Harris EL, Bryan N, Denckla MB (1994) Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 124:S1-S8
9. Huson SM, Hughes RAC (1994) The neurofibromatoses, a pathogenetic and clinical overview. Chapman and Hall, London
10. Huson SM, Harper PS, Compston DAS (1988) Von Recklinghausen neurofibromatosis; a clinical and population study in south-east Wales. Brain 111:1355-1381
11. Huson SM, Compston DAS, Harper PS (1988) A genetic study of von Recklinghausen neurofibromatosis in South East Wales. II Guidelines for genetic counselling. J Med Genet 26:712-721
12. Huson SM, Compston DAS, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in South East Wales. I Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26:704-711
13. Jedlicka-Köhler, Götz M, Eichler I (1994) Utilisation of prenatal diagnosis for cystic fibrosis over the past seven years. Paediatrics 94:13-16
14. Listernick R, Charrow J, Greenwald M, Mets M (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 125:63-66
15. National Institute of Health Consensus Development Conference (1988) Neurofibromatosis, conference statement. Arch Neurol 45:575-578
16. Obringer A, Meadows AT, Zackai EH (1989) The diagnosis of neurofibromatosis 1 in the child under the age of 6 years. Am J Dis Child 143:717-720
17. Riccardi VM. Von Recklinghausen neurofibromatosis (1981) N Engl J Med 305:1616-1627
18. Riccardi VM (1992) Neurofibromatosis, phenotype, natural history, and pathogenesis, 2nd rev edn. John Hopkins, Baltimore
19. Saxena KM (1970) Endocrine manifestations of neurofibromatosis. Am J Dis Child 120:265-271
20. Sorensen SA, Mulvihill JJ, Nielsen A (1986) Long-term follow-up of von Recklinghausen neurofibromatosis: survival and malignant neoplasms. N Engl J Med 314:1010-1015
21. Upadhyaya M, Fryer A, Macmillan J, Broadhead W, Huson SM, Harper PS (1992) Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. J Med Genet 29:180-183