{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:24:25Z","timestamp":1769603065602,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,3]]},"abstract":"<jats:p>A new family with the combination of trismus and curvature of the fingers on dorsiflexion of the wrist is described. Data from 24 affected members of this family make it likely that the measurements of mouth opening and of wrist angles are sufficient to recognize the syndrome. The affected persons also show a mild degree of short stature but only when compared with their unaffected sibs of the same sex. In the pronounced cases of trismus the coronoid process is enlarged by the extensive pull of the temporal muscle tendon unit which decreases the mandibular excursion. Surgical correction of the enlarged coronoid process may then be necessary.<\/jats:p>\n               <jats:p>The variable expressivity of this autosomal dominant trait makes it most likely that the phenotypes in the families described hitherto are due to the same mutation.<\/jats:p>","DOI":"10.1136\/jmg.11.1.41","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"41-49","source":"Crossref","is-referenced-by-count":30,"title":["The Trismus-Pseudocampylodactyly Syndrome"],"prefix":"10.1136","volume":"11","author":[{"given":"B. G. A. Ter","family":"Haar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. F. Van","family":"Hoof","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,3,1]]},"reference":[{"key":"ref_1","article-title":"American Academy of Orthopaedic Surgeons","volume-title":"Joint Motion, Method of Measuring and Recording","year":"1965","unstructured":"American Academy of Orthopaedic Surgeons (1965). Joint Motion, Method of Measuring and Recording. Livingstone, London."},{"key":"ref_2","first-page":"455","article-title":"A method for measuring and recording joint function","volume":"18","author":"Cave, E.F.; Roberts, S.M.","year":"1936","unstructured":"Cave, E. F. and Roberts, S. M. (1936). A method for measuring and recording joint function. Journal of Bone and Joint Surgery, 18, 455-465.","journal-title":"Journal of Bone and Joint Surgery"},{"key":"ref_3","article-title":"Afwiikingen van het Kauwstelsel","author":"Derksen, A.A.D.","year":"1970","unstructured":"Derksen, A. A. D. (1970). Afwiikingen van het Kauwstelsel. Oosthoek, Utrecht."},{"issue":"3","key":"ref_4","first-page":"96","article-title":"Inability to open the mouth fully: an autosomal dominant phenotype with facultative campylodactyly and short stature; preliminary report. In Birth Defects: Original Article","volume":"5","author":"Hecht, F.; Beals, R.K.","year":"1969","unstructured":"Hecht, F. and Beals, R. K. (1969). Inability to open the mouth fully: an autosomal dominant phenotype with facultative campylodactyly and short stature; preliminary report. In Birth Defects: Original Article Series, 5, Pt. 3, pp. 96-98. National FoundationMarch of Dimes, New York.","journal-title":"Series"},{"key":"ref_5","article-title":"Fracturen van de Processus Condylaris Mandibulae","author":"Kusen, G.J.","year":"1960","unstructured":"Kusen, G. J. (1960). Fracturen van de Processus Condylaris Mandibulae. Thesis, Utrecht."},{"key":"ref_6","first-page":"226","article-title":"An oculo-dento-digital dysplasia. In Birth Defects: Original Article Series","volume":"2","author":"O'Rourk, T.R.; Bravos, A.","year":"1969","unstructured":"O'Rourk, T. R. and Bravos, A. (1969). An oculo-dento-digital dysplasia. In Birth Defects: Original Article Series, 5, Pt. 2, pp. 226-227. National Foundation-March of Dimes, New York."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.2106\/00004623-196850060-00010","article-title":"Camptodactyly and similar atraumatic flexion deformities of the proximal interphalangeal joints of the fingers","volume":"50","author":"Smith, R.J.; Kaplan, E.B.","year":"1968","unstructured":"Smith, R. J. and Kaplan, E. B. (1968). Camptodactyly and similar atraumatic flexion deformities of the proximal interphalangeal joints of the fingers. Journal of Bone and Joint Surgery, 50A, 1187-1203.","journal-title":"Journal of Bone and Joint Surgery"},{"key":"ref_8","first-page":"173","article-title":"Shortened flexor tendons in hands and feet associated with limitation of mouth opening. In Fourth International Congress of Human Genetics","volume":"233","author":"Surana, R.B.; Ives, E.J.","year":"1971","unstructured":"Surana, R. B. and Ives, E. J. (1971). Shortened flexor tendons in hands and feet associated with limitation of mouth opening. In Fourth International Congress of Human Genetics. Excerpta Medica International Congress Series,No. 233, p. 173. Excerpta Medica, Amsterdam.","journal-title":"Excerpta Medica International Congress Series; Excerpta Medica, Amsterdam."},{"key":"ref_9","first-page":"180","article-title":"Trismus also onderdeel van enkele weinig bekende syndromen","volume":"41","author":"Ter Haar, B.G.A.; Van Hoof, R.F.","year":"1973","unstructured":"Ter Haar, B. G. A. and Van Hoof, R. F. (1973). Trismus also onderdeel van enkele weinig bekende syndromen. Maandschrift voor Kindergeneeskunde, 41, 180-194.","journal-title":"Maandschrift voor Kindergeneeskunde"},{"key":"ref_10","article-title":"Enlargement of the Coronoid Process","author":"Van Hoof, R.P.","year":"1973","unstructured":"Van Hoof, R. P. (1973). Enlargement of the Coronoid Process. Thesis, Nijmegen."},{"issue":"3","key":"ref_11","first-page":"99","article-title":"Autosomal dominant inheritance of shortening of the flexor profundus muscle tendon with limitation of jaw excursion","volume-title":"Birth Defects: Original Article Series","volume":"5","author":"Wilson, R.V.; Gaines, D.L.; Brooks, A.; Carter, T.S.; Nance, W.E.","year":"1969","unstructured":"Wilson, R. V., Gaines, D. L., Brooks, A., Carter, T. S., and Nance, W. E. (1969). Autosomal dominant inheritance of shortening of the flexor profundus muscle tendon with limitation of jaw excursion. In Birth Defects: Original Article Series, 5, Pt. 3, pp. 99-"},{"key":"ref_12","article-title":"National Foundation-March of Dimes","unstructured":"National Foundation-March of Dimes, New York."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.11.1.41","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:31:40Z","timestamp":1760765500000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.11.1.41"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1974,3]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1974,3,1]]},"published-print":{"date-parts":[[1974,3]]}},"alternative-id":["10.1136\/jmg.11.1.41"],"URL":"https:\/\/doi.org\/10.1136\/jmg.11.1.41","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1974,3]]}}}