{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:21Z","timestamp":1789524261168,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone\u2010shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. The aim of our study was to further describe the long\u2010term follow up of AD patients with an emphasis on orthopedic management. Nine patients with <jats:italic>FBN1<\/jats:italic> mutations were included in the study ranging in age from 5.5 to 64 years. For all, detailed clinical and radiological data were available. Results: Birth parameters were always normal and patients progressively developed short stature &lt;\u22123 SD. Carpal tunnel syndrome was observed in four patients. We found discrepancy between the carpal bone age and the radius and ulna epiphysis bone ages, a variable severity of hip dysplasia with acetabular dysplasia, epiphyseal and metaphyseal femoral dysplasia resembling Legg\u2013Perthes\u2013Calv\u00e9 disease and variable pelvic anteversion and hyperlordosis. Orthopedic surgery was required in two patients for hip dysplasia, in one for limb lengthening and in three for carpal tunnel syndrome. Our observations expand the AD phenotype and emphasize the importance of regular orthopedic survey. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36139","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T20:10:48Z","timestamp":1386792648000},"page":"331-337","source":"Crossref","is-referenced-by-count":11,"title":["Orthopedics management of acromicric dysplasia: Follow up of nine patients"],"prefix":"10.1002","volume":"164","author":[{"given":"C\u00e9line","family":"Klein","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale INSERM U781 Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Institut imagine H\u00f4pital Necker Enfants Malades Paris France"},{"name":"D\u00e9partement de chirurgie orthop\u00e9dique p\u00e9diatrique Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 H\u00f4pital Necker\u2010Enfants\u2010Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Le Goff","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale INSERM U781 Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Institut imagine H\u00f4pital Necker Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicken","family":"Topouchian","sequence":"additional","affiliation":[{"name":"D\u00e9partement de chirurgie orthop\u00e9dique p\u00e9diatrique Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 H\u00f4pital Necker\u2010Enfants\u2010Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique clinique H\u00f4pital Sud CHU de Rennes CNRS UMR 6061 Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes IFR 140 GFAS Facult\u00e9 de M\u00e9decine Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Violas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedic Surgery H\u00f4pital Sud Boulevard de Bulgarie University Hospital Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Glorion","sequence":"additional","affiliation":[{"name":"D\u00e9partement de chirurgie orthop\u00e9dique p\u00e9diatrique Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 H\u00f4pital Necker\u2010Enfants\u2010Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale INSERM U781 Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Institut imagine H\u00f4pital Necker Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/425231"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.745"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02002719"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240307"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(98)80120-2"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.9.962"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36139","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36139","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:18:28Z","timestamp":1696583908000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,11]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1002\/ajmg.a.36139"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36139","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,11]]}}}