{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:54:33Z","timestamp":1780354473892,"version":"3.54.1"},"reference-count":11,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,8]]},"abstract":"<jats:p>The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous publications. We have also had the opportunity to evaluate personally 12 families with a total of 18 affected males. The most frequent anomalies in patients previously reported are telecanthus 21\/21, hypospadias 19\/21, cleft lip\/palate or uvula 7\/21, high, broad nasal bridge 15\/15, cranial abnormality 6\/21, congenital heart defect 5\/21, cryptorchidism 9\/21, and mental retardation 11\/17. In our series, the most frequent anomalies include telecanthus 18\/18, hypospadias 18\/18, cleft lip\/palate or uvula 8\/18, high, broad nasal bridge 10\/11, cranial abnormality 12\/18, congenital heart defect 3\/18, upper urinary tract anomaly 4\/9, and mental retardation 10\/12. There is also an increased incidence of like-sex twinning, 11\/18 in our families. This syndrome must be more common than reflected in published reports. Based upon the observation that males are much more severely affected than females and the lack of male to male transmission, it appears that this condition is most likely to be inherited in an X linked fashion. Further elucidation of the phenotype and documentation of the inheritance is needed. The distinction between the telecanthus-hypospadias syndrome and the G syndrome also needs further clarification.<\/jats:p>","DOI":"10.1136\/jmg.25.8.536","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"536-542","source":"Crossref","is-referenced-by-count":24,"title":["The telecanthus-hypospadias syndrome."],"prefix":"10.1136","volume":"25","author":[{"given":"C A","family":"Stevens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"R S","family":"Wilroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,8,1]]},"reference":[{"key":"ref_1","first-page":"86","article-title":"Malformation syndromes","volume":"2","year":"1969","unstructured":"Malformation syndromes. New York: The National FoundationMarch of Dimes. Birth Defects 1969;V(2):86-94."},{"key":"ref_2","first-page":"\"82","article-title":"Malformation syndromes","volume":"2","author":"Michaelis, E.; Mortier, W.","year":"1969","unstructured":"Malformation syndromes. New York: The National Foundation-March of Dimes. Birth Defects 1969;V(2):82-5. 3 Michaelis E, Mortier W. Association of hypertelorism and hypospadias-the BBB syndrome. Helv Paediatr Acta 1972;27: 575-81.","journal-title":"Helv Paediatr Acta; Association of hypertelorism and hypospadias-the BBB syndrome"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00470600","article-title":"Studies of malformation syndromes of man. VB. The hypertelorism-hypospadias (BBB) syndrome","volume":"125","author":"Gonzalez, C.H.; Herrmann, J.; Opitz, J.M.","year":"1977","unstructured":"Gonzalez CH, Herrmann J, Opitz JM. Studies of malformation syndromes of man. VB. The hypertelorism-hypospadias (BBB) syndrome. Eur J Pediatr 1977;125:1-13.","journal-title":"Eur J Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/ajmg.1320020204","article-title":"The G and BBB syndromes: case presentations, genetics, and nosology","volume":"2","author":"Funderburk, S.J.; Stewart, R.","year":"1978","unstructured":"Funderburk SJ, Stewart R. The G and BBB syndromes: case presentations, genetics, and nosology. Am J Med Genet 1978;2: 131-44.","journal-title":"Am J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/ajmg.1320020205","article-title":"Phenotypic overlap of the BBB and G syndromes","volume":"2","author":"Cordero, J.F.; Holmes, L.B.","year":"1978","unstructured":"Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes. Am J Med Genet 1978;2:145-52.","journal-title":"Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1399-0004.1983.tb00433.x","article-title":"The hypertelorism-hypospadias syndrome","volume":"23","author":"EO, Da Silva","year":"1983","unstructured":"Da Silva EO. The hypertelorism-hypospadias syndrome. Clin Genet 1983;23:30-4.","journal-title":"Clin Genet"},{"key":"ref_7","first-page":"8","article-title":"values for selected physical parameters: an aid to syndrome delineation","volume":"13","author":"Feingold, M.","year":"1974","unstructured":"Feingold M, Bossert WH. In: Bergsma D, ed. Normal values for selected physical parameters: an aid to syndrome delineation. New York: The National Foundation-March of Dimes. Birth Defects 1974;X(13):8."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ajmg.1320200203","article-title":"Male-tomale transmission of the hypertelorism-hypospadias (BBB) syndrome","volume":"20","author":"Stoll, C.; Geraudel, A.; Berland, H.; Roth, M.P.; Dott, B.","year":"1985","unstructured":"Stoll C, Geraudel A, Berland H, Roth MP, Dott B. Male-tomale transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet 1985;20:221-5.","journal-title":"Am J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1399-0004.1983.tb00101.x","article-title":"Male to male transmission of the G syndrome","volume":"24","author":"Farndon, P.A.; Donnai, D.","year":"1983","unstructured":"Farndon PA, Donnai D. Male to male transmission of the G syndrome. Clin Genet 1983;24:446-8.","journal-title":"Clin Genet"},{"key":"ref_10","first-page":"240","article-title":"The hypertelorismhypospadias syndrome","volume":"26","author":"Reed, M.H.; Shokeir, M.H.K.; Macpherson, R.I.","year":"1975","unstructured":"Reed MH, Shokeir MHK, Macpherson RI. The hypertelorismhypospadias syndrome. J Can Assoc Radiol 1975;26:240-8.","journal-title":"J Can Assoc Radiol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0022-3476(77)80796-8","article-title":"Hypertelorism-hypospadias syndrome with a laryngotracheoesophageal cleft [letter to editorl","volume":"90","author":"Miller, P.R.; Bernstein, R.M.; Pathak, A.; Decancq, H.G.","year":"1977","unstructured":"Miller PR, Bernstein RM, Pathak A, Decancq HG. Hypertelorism-hypospadias syndrome with a laryngotracheoesophageal cleft [letter to editorl. J Pediatr 1977;90:157-8.","journal-title":"J Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.8.536","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:19:19Z","timestamp":1760732359000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.8.536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,8]]},"references-count":11,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1988,8,1]]},"published-print":{"date-parts":[[1988,8]]}},"alternative-id":["10.1136\/jmg.25.8.536"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.8.536","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,8]]}}}