{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:40:09Z","timestamp":1759725609478,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,4]]},"abstract":"<jats:p>Forty sets of parents and 24 sibs of patients with tuberous sclerosis were investigated by an extensive protocol, including clinical examination of skin, hair, and oral cavity, direct and indirect ophthalmoscopy, cranial CT scan, renal ultrasound, and a radiological skeletal survey. None of the clinical examinations provided evidence that any of the subjects was affected. Similarly, the cranial CT scan, renal ultrasound, and skeletal survey failed to identify any occult gene carriers. All of these investigations showed abnormalities in some parents but none was diagnostic. This study shows the difficulties in interpretation that these investigations may produce with consequent problems for genetic counselling. The study does not support the routine use of these tests. There are published reports where the diagnosis of tuberous sclerosis has been made in adults exclusively on a CT scan and an argument can be made for including this investigation. There is no indication for performing renal ultrasound nor skeletal x rays in parents who have normal clinical examinations.<\/jats:p>","DOI":"10.1136\/jmg.27.4.217","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"217-223","source":"Crossref","is-referenced-by-count":25,"title":["The value of investigation for genetic counselling in tuberous sclerosis."],"prefix":"10.1136","volume":"27","author":[{"given":"A E","family":"Fryer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A H","family":"Chalmers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J P","family":"Osborne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,4,1]]},"reference":[{"issue":"7","key":"ref_1","first-page":"32","article-title":"Wilson Rushton Lowry Baraitser Flinter Connor Two sibs Child and maternal uncle Two sibs Child and first cousin Two sibs Two half sibs Lancet","volume":"340","author":"16:","year":"1978","unstructured":"Wilson Rushton Lowry Baraitser Flinter Connor Two sibs Child and maternal uncle Two sibs Child and first cousin Two sibs Two half sibs Lancet 1978;i:340 7 Med (Genet 1979;16:32."},{"issue":"7","key":"ref_2","article-title":"Med Genet 1985; 22: 29 Lancet 1986; ii: 1167 Lancet 1986; ii: 1275 after the affected child, giving a recurrence risk of","volume":"216","author":"Lancet","year":"1979","unstructured":"Lancet 1979;i:216 7 Med Genet 1985;22:29 Lancet 1986;ii: 1167 Lancet 1986;ii: 1275 after the affected child, giving a recurrence risk of"},{"key":"ref_3","first-page":"1","article-title":"Erforsch Behandljugendl Schwachsinns 1908; 2","author":"der tuberosen sklerose. Z, I.Vogt H.Zur Diagnostik","unstructured":"I Vogt H. Zur Diagnostik der tuberosen sklerose. Z Erforsch Behandljugendl Schwachsinns 1908;2:1-12."},{"year":"1979","author":"sclerosis, Gomez MRTuberous","key":"ref_4","unstructured":"Gomez MR, ed. Tuberous sclerosis. New York: Raven Press, 1979."},{"issue":"32","key":"ref_5","first-page":"591","article-title":"Tuberous sclerosis: a genetic study","volume":"1969","author":"Bundey, S.; Evans, K.","unstructured":"Bundey S, Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry 1969;32:591-603.","journal-title":"J Neurol Neurosurg Psychiatry"},{"article-title":"Genetics of tuberous sclerosis. Lancet 1978; i: 340. investigation produced a number of findings which are difficult to interpret. Furthermore, there have","author":"Wilson, J.; Carter, C.","key":"ref_6","unstructured":"Wilson J, Carter C. Genetics of tuberous sclerosis. Lancet 1978;i:340. investigation produced a number of findings which are difficult to interpret. Furthermore, there have"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1001\/jama.1976.03270110017007","article-title":"CT scans and tuberous sclerosis","volume":"236","author":"Murphy, J.V.; D'Souza, B.J.; Haughton, V.M.","year":"1976","unstructured":"Murphy JV, D'Souza BJ, Haughton VM. CT scans and tuberous sclerosis. JAMA 1976;236:1115.","journal-title":"JAMA"},{"key":"ref_8","first-page":"107","article-title":"Tuberous sclerosis: been no reports of bone abnormalities as the only sign in TS. There does not, therefore, seem to be any evidence to support the inclusion of this investigation the incidence of sporadic cases versus familial cases","volume":"2","author":"Fleury, P.; de Groot, W.P.; Delleman, J.W.","year":"1979","unstructured":"Fleury P, de Groot WP, Delleman JW, et al. Tuberous sclerosis: been no reports of bone abnormalities as the only sign in TS. There does not, therefore, seem to be any evidence to support the inclusion of this investigation the incidence of sporadic cases versus familial cases. Brain Dev 1979;2: 107-17.","journal-title":"Brain Dev"},{"key":"ref_9","first-page":"1302","article-title":"Family studies in tuberous sclerosis; evaluation of apparently unaffected in the routine assessment of family members. Honeycomb lung, usually seen in females, was not parents","volume":"248","author":"Cassidy, S.B.; Pagon, R.A.; Pepin, M.; Blumhagen, J.D.","year":"1983","unstructured":"Cassidy SB, Pagon RA, Pepin M, Blumhagen JD. Family studies in tuberous sclerosis; evaluation of apparently unaffected in the routine assessment of family members. Honeycomb lung, usually seen in females, was not parents. JAMA 1983;248:1302-4.","journal-title":"JAMA"},{"article-title":"Examining the parents of children with tuberous sclerosis. Lancet 1986; ii: 1167. seen in any subject. One further investigation, echocardiography, has recently24 been shown to","author":"Flinter, F.A.; Neville, B.G.R.","key":"ref_10","unstructured":"Flinter FA, Neville BGR. Examining the parents of children with tuberous sclerosis. Lancet 1986;ii: 1167. seen in any subject. One further investigation, echocardiography, has recently24 been shown to"},{"key":"ref_11","first-page":"659","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"i:","author":"Fryer, A.E.; Chalmers, A.; Connor, J.M.","year":"1987","unstructured":"Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987,i: 659-61.","journal-title":"Lancet"},{"key":"ref_12","first-page":"771","article-title":"detect cardiac rhabdomyomata in patients with TS. 11 Shelton RW. The incidence of ocular lesions in tuberous Echocardiography was not available to us and was not investigated in this study. If a well established sclerosis","volume":"7","year":"1975","unstructured":"detect cardiac rhabdomyomata in patients with TS. 11 Shelton RW. The incidence of ocular lesions in tuberous Echocardiography was not available to us and was not investigated in this study. If a well established sclerosis. Ann Ophthalmol 1975;7:771-4."},{"article-title":"Diagnosis of tuberous sclerosis. JAMA 1983; 250: 1977-8. investigation such as cranial CT scanning has not proved useful, then it seems unlikely that this would prove useful either. Furthermore, there is also evidence that the cardiac rhabdomyomas in TS get smaller as the child grows25 and hence the chance of detecting these lesions in adults is reduced. The low recurrence risk in those clinically normal suggests that","author":"Pagon, R.A.; Cassidy, S.B.","key":"ref_13","unstructured":"Pagon RA, Cassidy SB. Diagnosis of tuberous sclerosis. JAMA 1983;250: 1977-8. investigation such as cranial CT scanning has not proved useful, then it seems unlikely that this would prove useful either. Furthermore, there is also evidence that the cardiac rhabdomyomas in TS get smaller as the child grows25 and hence the chance of detecting these lesions in adults is reduced. The low recurrence risk in those clinically normal suggests that"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1111\/j.1469-8749.1970.tb07876.x","article-title":"The significance of a white macule on the skin of a child","volume":"12","author":"Bundey, S.","year":"1970","unstructured":"Bundey S. The significance of a white macule on the skin of a child. Dev Med Child Neurol 1970;12:805-6.","journal-title":"Dev Med Child Neurol"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/S0387-7604(79)80033-9","article-title":"Computed tomography in tuberous sclerosis","volume":"1","author":"Maki, Y.; Enomoto, T.; Marayuma, H.; Maekawa, K.","year":"1979","unstructured":"Maki Y, Enomoto T, Marayuma H, Maekawa K. Computed tomography in tuberous sclerosis. Brain Dev 1979;1:38-48.","journal-title":"Brain Dev"},{"key":"ref_16","first-page":"337","article-title":"Computed tomography in diagnosis of intracranial tubers versus tubers in tuberous sclerosis","volume":"23","author":"Winter, J.","year":"1982","unstructured":"Winter J. Computed tomography in diagnosis of intracranial tubers versus tubers in tuberous sclerosis. Acta Radiol 1982;23: 337-44.","journal-title":"Acta Radiol"},{"key":"ref_17","first-page":"2323","article-title":"Computer-assisted cranial tomography in early diagnosis of tuberous sclerosis","volume":"235","author":"Martin, G.I.; Kaiserman, D.; Liegler, D.; Amorosi, E.D.; Nadel, H.","year":"1976","unstructured":"Martin GI, Kaiserman D, Liegler D, Amorosi ED, Nadel H. Computer-assisted cranial tomography in early diagnosis of tuberous sclerosis. JAMA 1976;235:2323-4. echocardiography may not prove useful. In summary, therefore, the most important part of","journal-title":"JAMA; echocardiography may not prove useful. In summary, therefore, the most important part of"},{"key":"ref_18","first-page":"29","article-title":"CT diagnosis of phakomatoses","volume":"11","author":"Salvolini, V.; Pasquini, V.; Vouge, M.","year":"1984","unstructured":"Salvolini V, Pasquini V, Vouge M. CT diagnosis of phakomatoses. J Neuroradiol 1984;11:29-45.","journal-title":"J Neuroradiol"},{"key":"ref_19","article-title":"Children with involuntary movement carrier detection in parents of a TS child is the clinical examination. Despite the findings of this disorders","volume-title":"Neurologically sick children: treatment and management","author":"Lang, A.; Marsden, D.","year":"1986","unstructured":"Lang A, Marsden D. Children with involuntary movement carrier detection in parents of a TS child is the clinical examination. Despite the findings of this disorders. In: Gordon N, McKinlay I, eds. Neurologically sick children: treatment and management. Oxford: Blackwell Scientific Publications, 1986."},{"key":"ref_20","first-page":"103","article-title":"study, it may still be prudent to include cranial CT 19 Becker JA, Schneider M. Simple cyst of the kidney. Semin scanning for carrier detection","volume":"10","year":"1975","unstructured":"study, it may still be prudent to include cranial CT 19 Becker JA, Schneider M. Simple cyst of the kidney. Semin scanning for carrier detection. There is sufficient evidence from published reports that it can be useful Roentgenol 1975;10:103-11."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/58.1.1","article-title":"The osseous lesions of tuberous sclerosis","volume":"58","author":"Holt, J.F.; Dickerson, W.W.","year":"1952","unstructured":"Holt JF, Dickerson WW. The osseous lesions of tuberous sclerosis. Radiology 1952;58:1-7.","journal-title":"Radiology"},{"issue":"1","key":"ref_22","article-title":"Genetics of tuberous sclerosis","volume":"75","author":"Hail, J.G.; Byers, P.H.","year":"1987","unstructured":"Hail JG, Byers PH. Genetics of tuberous sclerosis. Lancet 1987;i:75 1.","journal-title":"Lancet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jmg.26.1.28","article-title":"Genetic aspects of tuberous sclerosis in the west of Scotland","volume":"26","author":"Sampson, JR, Scahill; SJ, Stephenson; JBP, Mann; L, Connor; J.M.","year":"1989","unstructured":"Sampson JR, Scahill SJ, Stephenson JBP, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. j Med Genet 1989;26:28-31.","journal-title":"j Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1177\/000992287801701202","article-title":"Computerized axial tomography in family members of patients with tuberous sclerosis","volume":"17","author":"Racy, A.; Barakat, A.Y.; Cochran, W.E.","year":"1978","unstructured":"Racy A, Barakat AY, Cochran WE. Computerized axial tomography in family members of patients with tuberous sclerosis. 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Arch Dis Child 1989;64:196-200.","journal-title":"Arch Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.4.217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:08:32Z","timestamp":1759723712000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.4.217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,4]]},"references-count":26,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1990,4,1]]},"published-print":{"date-parts":[[1990,4]]}},"alternative-id":["10.1136\/jmg.27.4.217"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.4.217","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,4]]}}}