{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:54:47Z","timestamp":1790855687741,"version":"4.1.0"},"reference-count":29,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,11]]},"abstract":"<jats:p>The age of appearance and diagnostic value of the major defining features of von Recklinghausen neurofibromatosis (NF-1) have been studied in 168 cases from 73 families. In assessing children of an affected patient, those who have inherited the gene can be distinguished from their normal sibs on the basis of whether or not caf\u00e9 au lait (CAL) spots are present by the age of five years. Lisch nodules appear before cutaneous neurofibromas and are a useful clinical aid in the assessment of unusual cases, those in whom the diagnosis is equivocal, and children with multiple CAL spots but no family history of NF-1. Sixty-nine of the families were identified through a population based study in south east Wales and the frequency of complications in 135 affected subjects from these families has been used to develop figures for genetic counselling. For these purposes, the complications of NF-1 can be usefully divided into four categories: intellectual handicap (33%) (moderate\/severe retardation 3.2%, minimal retardation\/learning difficulties 29.8%); complications developing in childhood and causing lifelong morbidity (8.5%); 'treatable' complications which can develop at any age (15.7%); and malignant or CNS tumours (4.4 to 5.2%).<\/jats:p>","DOI":"10.1136\/jmg.26.11.712","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"712-721","source":"Crossref","is-referenced-by-count":152,"title":["A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling."],"prefix":"10.1136","volume":"26","author":[{"given":"S M","family":"Huson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D A","family":"Compston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Harper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1989,11,1]]},"reference":[{"issue":"49","key":"ref_1","first-page":"589","article-title":"Gcne for von Rccklinghauscn ncurofibromatosis is in the pcricentromcric region of chromosome 17. Scientce 1987: 236: 1 10(0-2. - Scizingcr BR. Roulcau GA","volume":"1987","author":"K, Barker V.Wright E.Nguycn","unstructured":"Barker V. Wright E. Nguycn K. et al. Gcne for von Rccklinghauscn ncurofibromatosis is in the pcricentromcric region of chromosome 17. Scientce 1987:236:1 10(0-2. - Scizingcr BR. Roulcau GA. Ozclius LG. et al. Genetic linkage of von Recklinghauscn ncurofibromatosis to the ncrvc growth factor rcceptor genc. Cell 1987,49:589-94.","journal-title":"Ozclius LG. et al. Genetic; linkage of von Recklinghauscn ncurofibromatosis to the ncrvc growth factor rcceptor genc"},{"key":"ref_2","first-page":"6","article-title":"Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration","volume":"44","author":"Goldgar, D.E.; Green, P.; Parry, D.M.; Mulvihill, J.J.","year":"1989","unstructured":"Goldgar DE, Green P, Parry DM, Mulvihill JJ. Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration. Am J Hum Genet 1989;44:6-12.","journal-title":"Am J Hum Genet"},{"key":"ref_3","first-page":"s","article-title":"A clinical, pathological and genetic study of multiple neurofibromatosis","volume-title":"A genetic study of von Recklinghausen neurofibromatosis (NF-1) in","author":"Crowe, F.W.; Schull, W.J.; Neele, J.V.","year":"1956","unstructured":"Crowe FW, Schull WJ, Neele JV. A clinical, pathological and genetic study of multiple neurofibromatosis. Springfield, Illinois: CCThomas, 1956. s Huson SM, Compston DAS, Harper PS. A genetic study of von Recklinghausen neurofibromatosis (NF-1) in south east Wales."},{"key":"ref_4","first-page":"704","article-title":"mutation rate, and effect of parental transmission on severity","volume":"26","author":"Prevalence, fitness","year":"1989","unstructured":"Prevalence, fitness, mutation rate, and effect of parental transmission on severity. 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Natural history and results of treatment in thirty-seven cases","volume":"56","author":"Chaglassian, J.H.; Riseborough, E.J.; Hall, J.E.","year":"1976","unstructured":"Chaglassian JH, Riseborough EJ, Hall JE. Neurofibromatosis scoliosis. Natural history and results of treatment in thirty-seven cases. J Bone Joint Surg (Am) 1976;56:695-702.","journal-title":"J Bone Joint Surg (Am)"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"677","DOI":"10.2106\/00004623-197961050-00006","article-title":"Spine deformity in neurofibromatosis","volume":"61","author":"JH, Winter R.B.Moe; DS, Bradford; CV, Lonstein J.E.Pedras; AH, Weber","year":"1979","unstructured":"Winter RB. Moe JH, Bradford DS, Lonstein JE. Pedras CV, Weber AH. Spine deformity in neurofibromatosis. 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Neuropediatrics 1986;17:183-9.","journal-title":"Neuropediatrics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1399-0004.1986.tb00770.x","article-title":"Iris (Lisch) nodules in ncurofibromatosis","volume":"29","author":"RM, Zehavi C.Romano A.Goodman","year":"1986","unstructured":"Zehavi C. Romano A. Goodman RM. Iris (Lisch) nodules in ncurofibromatosis. Clin Genet 1986;29:51-5.","journal-title":"Clin Genet"},{"key":"ref_25","first-page":"575","article-title":"NIH consensus development statement","volume":"45","author":"Neurofibromatosis","year":"1988","unstructured":"-Neurofibromatosis. NIH consensus development statement. 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Trans Pathol Soc Lond 1885;36:494-8."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.11.712","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:03:22Z","timestamp":1760767402000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.11.712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,11]]},"references-count":29,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1989,11,1]]},"published-print":{"date-parts":[[1989,11]]}},"alternative-id":["10.1136\/jmg.26.11.712"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.11.712","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,11]]}}}