{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:13:54Z","timestamp":1760728434752,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,4]]},"abstract":"<jats:p>A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.<\/jats:p>","DOI":"10.1136\/jmg.24.4.232","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"232-234","source":"Crossref","is-referenced-by-count":9,"title":["A girl with the Weaver syndrome."],"prefix":"10.1136","volume":"24","author":[{"given":"E M","family":"Thompson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J V","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M E","family":"Pembrey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/S0022-3476(74)80675-X","article-title":"A new overgrowth syndrome with accelerated skeletal maturation. unusual facies. and camptodactyly","volume":"84","author":"Weaver, D.D.; Graham, C.B.; Thomas, I.T.; Smith, D.W.","year":"1974","unstructured":"Weaver DD, Graham CB, Thomas IT, Smith DW. A new overgrowth syndrome with accelerated skeletal maturation. unusual facies. and camptodactyly. J Pediatr 1974;84:547-52.","journal-title":"J Pediatr"},{"key":"ref_2","first-page":"22","article-title":"Mellman WJ. Case report 18. Syyndrome Identificationi","volume":"2","author":"Moreno, H.C.; Zachai, E.H.; Kaufman, H.J.","year":"1974","unstructured":"Moreno HC, Zachai EH, Kaufman HJ. Mellman WJ. Case report 18. Syyndrome Identificationi 1974;2:22-5."},{"key":"ref_3","first-page":"177","article-title":"Acceleration du developpement postnatal. hypertonic, enlargissement des phalanges medianes ct des metaphyses distales du femur. facies particulier s'agit-il d'un syndrome de Weaver?","volume":"35","author":"C, Bosch-Banyeras J.I.Salcedo S.Lucaya J.Lavcrde Boronait M.Marti-Henncberg","year":"1978","unstructured":"Bosch-Banyeras JI Salcedo S. Lucaya J. Lavcrde Boronait M. Marti-Henncberg C. Acceleration du developpement postnatal. hypertonic, enlargissement des phalanges medianes ct des metaphyses distales du femur. facies particulier s'agit-il d'un syndrome de Weaver? Arch Fr Pediatr 1978;35:177-83.","journal-title":"Arch Fr Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1016\/S0022-3476(80)80436-7","article-title":"The Weaver-Smith syndrome","volume":"97","author":"Gemme, G.; Bonioli, E.; Lagorio, Ruffa G.; V.","year":"1980","unstructured":"Gemme G, Bonioli E, Ruffa G. Lagorio V. The Weaver-Smith syndrome. J Pediatr 1980;97:962-4.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1007\/BF00443267","article-title":"Accelerated bone maturation syndrome of the Weaver type","volume":"137","author":"Weisswichert, P.H.; Willich, Knapp G.; E.","year":"1981","unstructured":"Weisswichert PH, Knapp G. Willich E, Accelerated bone maturation syndrome of the Weaver type. Eur J Pediatr 1981;137:329-33.","journal-title":"Eur J Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF00443257","article-title":"The Weaver syndrome: a rare type of primordial overgrowth","volume":"137","author":"Majewski, F.; Ranke, M.; Schmidt, Kemperdick H.; E.","year":"1981","unstructured":"Majewski F, Ranke M, Kemperdick H. Schmidt E. The Weaver syndrome: a rare type of primordial overgrowth. Eur J Pediatr 1981;137:277-82.","journal-title":"Eur J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1001\/archpedi.1984.02140500019006","article-title":"Weaver-Smith syndrome. A case study with long term follow-up","volume":"138","author":"Amir, N.; Gross-Kieselstein, E.; Hirsch, H.J.; Lax, E.; SilverbergShalev, R.","year":"1984","unstructured":"Amir N, Gross-Kieselstein E, Hirsch HJ, Lax E, SilverbergShalev R. Weaver-Smith syndrome. A case study with long term follow-up. Am J Dis Child 1984;138:1113-7.","journal-title":"Am J Dis Child"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/BF00445673","article-title":"The Weavcr syndromc in a girl","volume":"141","author":"Meinecke, P.; Schaefer, E.; Engelbrecht, R.","year":"1983","unstructured":"Meinecke P, Schaefer E, Engelbrecht R. The Weavcr syndromc in a girl. Eur J Pediatr 1983;141:58-9.","journal-title":"Eur J Pediatr"},{"key":"ref_9","first-page":"559","article-title":"Assessmnent of skeletal maturity and prediction of adult height (TW2 mnethod)","volume":"20","author":"Tanner, J.M.; Whitchouse, R.H.; Healy, Cameron N.Marshall W.A.; MJR, Goldstein; H.","year":"1983","unstructured":"Tanner JM, Whitchouse RH, Cameron N. Marshall WA. Healy MJR, Goldstein H. Assessmnent of skeletal maturity and prediction of adult height (TW2 mnethod). 2nd ed. London: Academic Press, 1983. \" Fitch N. Update on the Marshall-Smith-Weaver controversy (letter). Ain J Med Getnet 1985;20:559-62.","edition":"2nd ed","journal-title":"Ain J Med Getnet; Fitch N. Update on the Marshall-Smith-Weaver controversy (letter"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/S0022-3476(83)80195-4","article-title":"Siblings with Weavcr syndrome","volume":"102","author":"MJ, Roussounis S.H.Crawford","year":"1983","unstructured":"Roussounis SH. Crawford MJ. Siblings with Weavcr syndrome. J Pediatr 1983;102:595-7.","journal-title":"J Pediatr"},{"key":"ref_11","first-page":"385","article-title":"Avance de la maturation osseuse et syndrome dysmorphique chez deux germains (syndrome de Marshall-Weaver)","volume":"31","author":"Jalaguier, J.; Montoya, F.; Germain, M.; Bonnet, H.","year":"1983","unstructured":"Jalaguier J, Montoya F, Germain M, Bonnet H. Avance de la maturation osseuse et syndrome dysmorphique chez deux germains (syndrome de Marshall-Weaver). J Genet Hum 1983; 31:385-95.","journal-title":"J Genet Hum"},{"key":"ref_12","article-title":"biological research vol 200","volume-title":"Papadatos CJi Bartsocas CS, eds. Entdocrine genetics atnd genetics ofgrowth. Progress in clinical and","author":"Hall, B.D.","year":"1985","unstructured":"Hall BD. In: Papadatos CJi Bartsocas CS, eds. Entdocrine genetics atnd genetics ofgrowth. Progress in clinical and biological research vol 200. New York: Alan R Liss, 1985."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.4.232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:38:44Z","timestamp":1760726324000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.4.232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,4]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1987,4,1]]},"published-print":{"date-parts":[[1987,4]]}},"alternative-id":["10.1136\/jmg.24.4.232"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.4.232","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,4]]}}}