{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T07:26:57Z","timestamp":1769239617801,"version":"3.49.0"},"reference-count":16,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,11]]},"abstract":"<jats:p>We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.<\/jats:p>","DOI":"10.1136\/jmg.33.11.972","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"972-974","source":"Crossref","is-referenced-by-count":28,"title":["An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis."],"prefix":"10.1136","volume":"33","author":[{"given":"A D","family":"Irvine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O M","family":"Dolan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D R","family":"Hadden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F J","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E A","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N C","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,11,1]]},"reference":[{"key":"ref_1","first-page":"136","article-title":"Hereditary or idiopathic hyperplasia of the gums","volume":"7","author":"Rushton, M.A.","year":"1957","unstructured":"Rushton MA. Hereditary or idiopathic hyperplasia of the gums. Dental Practit 1957;7:136-46.","journal-title":"Dental Practit"},{"key":"ref_2","first-page":"401","article-title":"Idiopathic gingival hyperplasia and hypertrichosis associated with acromegaloid features","volume":"28","author":"Vontobel, F.","year":"1973","unstructured":"Vontobel F. Idiopathic gingival hyperplasia and hypertrichosis associated with acromegaloid features. Helv Paediatr Acta 1973;28:401-11.","journal-title":"Helv Paediatr Acta"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/jmg.22.2.119","article-title":"An autosomal dominant syndrome with \"acromegaloid\" features and thickened oral mucosa","volume":"22","author":"Hughes, H.E.; McAlpine, P.J.; Cox, D.W.; Philipps, S.A.","year":"1985","unstructured":"Hughes HE, McAlpine PJ, Cox DW, Philipps SA. An autosomal dominant syndrome with \"acromegaloid\" features and thickened oral mucosa. Jf Med Genet 1985;22: 119-25.","journal-title":"Jf Med Genet"},{"key":"ref_4","first-page":"518","article-title":"Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental and digital defects. Confirmation of the Gorlin-Chaudhry-Moss syndrome","volume":"44","author":"Ippel, P.F.; Gorlin, R.J.; Lenz, W.; VanDoorne, J.M.; Bijlsma, J.B.","year":"1992","unstructured":"Ippel PF, Gorlin RJ, Lenz W, VanDoorne JM, Bijlsma JB. Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental and digital defects. Confirmation of the Gorlin-Chaudhry-Moss syndrome. AmJMed Genet 1992; 44:518-22.","journal-title":"AmJMed Genet"},{"issue":"3","key":"ref_5","first-page":"1","article-title":"Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations","volume":"923","author":"Hambrick, G.W.; Carter, D.M.","year":"1965","unstructured":"Hambrick GW, Carter DM. Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations. N Engl Jf Med 1965;272;923-3 1.","journal-title":"N Engl Jf Med"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/0030-4220(72)90290-3","article-title":"Double lip and double lip with bepharochalasis (Ascher's syndrome)","volume":"34","author":"Barnett, M.L.; Bosshardt, L.L.; Morgan, A.F.","year":"1972","unstructured":"Barnett ML, Bosshardt LL, Morgan AF. Double lip and double lip with bepharochalasis (Ascher's syndrome). Oral Surg 1972;34:727-33.","journal-title":"Oral Surg"},{"key":"ref_7","article-title":"Mendelian inheritance in man: a catalog of human genes and genetic disorders. Vol 1","author":"McKusick, V.A.","year":"1994","unstructured":"McKusick VA. Mendelian inheritance in man: a catalog of human genes and genetic disorders. Vol 1. Baltimore: The Johns Hopkins University Press, 1994."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1136\/jmg.29.6.419","article-title":"Acromegaloid facial appearance (AFA) syndrome: report of a second family","volume":"29","author":"Dallapicolla, B.; Zelante, L.; Accadia, L.; Mingarelli, R.","year":"1992","unstructured":"Dallapicolla B, Zelante L, Accadia L, Mingarelli R. Acromegaloid facial appearance (AFA) syndrome: report of a second family. J7 Med Genet 1992;29:419-22.","journal-title":"J7 Med Genet"},{"key":"ref_9","first-page":"2459","article-title":"Inherited abnormalities of the skin and its appendages","author":"Cockayne, A.A.","year":"1993","unstructured":"Cockayne AA. Inherited abnormalities of the skin and its appendages. London: Oxford University Press, 1993:2459."},{"key":"ref_10","article-title":"The hair","volume-title":"Textbook of dermatology. Vol 3","author":"Ebling, F.J.G.; Dawber, R.; Rook, A.","unstructured":"Ebling FJG, Dawber R, Rook A. The hair. In: Rook A, Wilkinson DS, Ebling FJG, Champion RH, Burton JL, eds. Textbook of dermatology. Vol 3. Oxford: Blackwell Scientific Publications, 1986:1959."},{"key":"ref_11","first-page":"1","article-title":"Hypertrichosis lanuginosa universalis..7 Genet Hum","volume":"17","author":"Felgenhauer, W.R.","year":"1969","unstructured":"Felgenhauer WR. Hypertrichosis lanuginosa universalis..7 Genet Hum 1969;17:1-44."},{"key":"ref_12","article-title":"Anomalies and curiosities of medicine","author":"Gould, G.M.; Pyle, W.L.","unstructured":"Gould GM, Pyle WL. Anomalies and curiosities of medicine. London: Sydenham, 1956:231."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ajmg.1320470213","article-title":"the nondescript: an example of congenital, generalised hypertrichosis terminalis with gingival hyperplasia","volume":"47","author":"Bondeson, J.; Pastrana, Miles A.E.W.Julia","year":"1993","unstructured":"Bondeson J, Miles AEW. Julia Pastrana, the nondescript: an example of congenital, generalised hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet 1993; 47:198-212.","journal-title":"Am J Med Genet"},{"issue":"4","key":"ref_14","first-page":"41","article-title":"Uber die Bezahnung bei Menschen mit abnormer Behaarung","volume":"1886","author":"Parreidt, J.","unstructured":"Parreidt J. Uber die Bezahnung bei Menschen mit abnormer Behaarung. Deutsche MonatsschrZahnheilkd 1886;4:41-54.","journal-title":"Deutsche MonatsschrZahnheilkd"},{"key":"ref_15","first-page":"106","volume":"16","author":"den Affemenschen und den Barenmenschen. Z Ethnol, Bartels M.Uber","year":"1884","unstructured":"Bartels M. Uber den Affemenschen und den Barenmenschen. Z Ethnol 1884;16:106-13."},{"key":"ref_16","first-page":"210","article-title":"Heterogeneity in gingival fibromatosis","volume":"7","author":"Witkop, C.J.","year":"1971","unstructured":"Witkop CJ. Heterogeneity in gingival fibromatosis. Birth Defects 1971;7:210-21.","journal-title":"Birth Defects"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.11.972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:29:22Z","timestamp":1760740162000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.11.972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,11]]},"references-count":16,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1996,11,1]]},"published-print":{"date-parts":[[1996,11]]}},"alternative-id":["10.1136\/jmg.33.11.972"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.11.972","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,11]]}}}