{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:06:52Z","timestamp":1791032812342,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,12]]},"abstract":"<jats:p>The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome.<\/jats:p>","DOI":"10.1136\/jmg.24.12.733","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"733-749","source":"Crossref","is-referenced-by-count":44,"title":["Multiple pterygium syndrome: evolution of the phenotype."],"prefix":"10.1136","volume":"24","author":[{"given":"E M","family":"Thompson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Pembrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Fixsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,12,1]]},"reference":[{"key":"ref_1","article-title":"Syndromes of the head and neck","author":"Gorlin, R.; Pinborg, J.J.; Cohen, M.","year":"1976","unstructured":"Gorlin R, Pinborg JJ, Cohen M. Syndromes of the head and neck. 2nd ed. New York: McGraw-Hill, 1976.","edition":"2nd ed"},{"key":"ref_2","first-page":"609","article-title":"Multiple pterygium syndrome","volume":"132","author":"Escobar, V.; Bixler, D.; Gleiser, S.; Gibbs, Weaver D.D.; T.","year":"1978","unstructured":"Escobar V, Bixler D, Gleiser S, Weaver DD. Gibbs T. Multiple pterygium syndrome. Am J Dis Child 1978;132:609-11.","journal-title":"Am J Dis Child"},{"key":"ref_3","article-title":"Recognizable patterns of human malformation","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of human malformation. 3rd ed. London: Saunders, 1982.","edition":"3rd ed"},{"issue":"12","key":"ref_4","first-page":"377","article-title":"Limb pterygium syndromes. A review and report of eleven patients","volume":"1982","author":"KN, Hall J.G.Reed S.D.Rosenbaum; KM, Gershanik J.Chen H.Wilson","unstructured":"Hall JG. Reed SD. Rosenbaum KN, Gershanik J. Chen H. Wilson KM. Limb pterygium syndromes. 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Birth Defects 1969;V(2):231-2.","journal-title":"Birth Defects"},{"key":"ref_7","first-page":"233","article-title":"Pterygium syndrome in three children in a recessive pedigree pattern","volume":"2","author":"Norum, R.A.; James, V.L.; Mabry, C.C.","unstructured":"Norum RA, James VL, Mabry CC. Pterygium syndrome in three children in a recessive pedigree pattern. Birth Defects 1969:V(2):233-5.","journal-title":"Birth Defects 1969"},{"issue":"108","key":"ref_8","first-page":"248","article-title":"Beitrag zum Bilde der Pterygomyodysplasia arthrogrypotica generalis (pterygoarthromyodysplasia congenita)","volume":"1960","author":"Lang, V.K.; Lelbach, W.K.; Colmant, H.J.","unstructured":"Lang VK, Lelbach WK, Colmant HJ. Beitrag zum Bilde der Pterygomyodysplasia arthrogrypotica generalis (pterygoarthromyodysplasia congenita). Monatsschr Kinderheilkd 1960;108:248-52.","journal-title":"Monatsschr Kinderheilkd"},{"key":"ref_9","first-page":"\"797","article-title":"The 'forme fruste' in Marfan's syndrome","volume":"260","author":"Golden, R.L.; Lakin, H.","year":"1959","unstructured":"Golden RL, Lakin H. The 'forme fruste' in Marfan's syndrome. N Engl J Med 1959;260:797-801. \"' Martischnig E, Swoboda W. Arthrogryposis multiplex congenita und Pterygium syndrom. Monatsschr Kiniderheilkd 1952;100:225.","journal-title":"N Engl J Med; Martischnig E, Swoboda W. Arthrogryposis multiplex congenita und Pterygium syndrom"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/S0022-3476(83)80013-4","article-title":"Femoral hypoplasia-unusual facics syndrome in infants of diabetic mothers","volume":"102","author":"Johnson, J.P.; Carey, J.C.; Gooch, M.; Petersen, J.; Beattie, J.F.","year":"1983","unstructured":"Johnson JP, Carey JC, Gooch M, Petersen J, Beattie JF. Femoral hypoplasia-unusual facics syndrome in infants of diabetic mothers. J Pediatr 1983;102:866-72.","journal-title":"J Pediatr"},{"issue":"489-91","key":"ref_11","first-page":"3","article-title":"Syndrome of phocomelic diabetic embryopathy (caudal dysplasia)","volume":"123","author":"Assemany, SR, Muzzo; S, Gardner; L.I.","year":"1984","unstructured":"Assemany SR, Muzzo S, Gardner LI. Syndrome of phocomelic diabetic embryopathy (caudal dysplasia). Ain J Dis Child 1972:123:489-91. '3 Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J. The femoral hypoplasia-unusual facies syndrome. J Med Getnet 1984;21:331-40.","journal-title":"Ain J Dis Child; The femoral hypoplasia-unusual facies syndrome"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.12.733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:47:00Z","timestamp":1760726820000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.12.733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,12]]},"references-count":11,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1987,12,1]]},"published-print":{"date-parts":[[1987,12]]}},"alternative-id":["10.1136\/jmg.24.12.733"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.12.733","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,12]]}}}