{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T03:01:28Z","timestamp":1784602888167,"version":"3.55.0"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"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":[[2013,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill\u2013Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. Weill\u2013Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and\/or bronchopulmonary insufficiency, often leading to early death. Microspherophakia has not been reported previously in geleophysic dysplasia. Mutations in <jats:italic>FBN1<\/jats:italic>, <jats:italic>ADAMTS10<\/jats:italic>, or <jats:italic>ADAMTS17<\/jats:italic> cause Weill\u2013Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF\u2010\u03b2 signaling mediated through mutations in <jats:italic>FBN1<\/jats:italic> or <jats:italic>ADAMTSL2<\/jats:italic>. We studied a 35\u2010year\u2010old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease, restrictive pulmonary disease, and microspherophakia. Sequencing of <jats:italic>ADAMTSL2<\/jats:italic> demonstrated two changes: IVS8\u20102A&gt;G consistent with a disease\u2010causing mutation, and IVS14\u20107G&gt;A with potential to generate a new splice acceptor site and result in aberrant mRNA processing. The unaffected mother carries only the IVS8\u20102A&gt;G transition providing evidence that the two changes are in <jats:italic>trans<\/jats:italic>\u2010configuration in our patient. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36147","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T01:03:49Z","timestamp":1381539829000},"page":"3130-3132","source":"Crossref","is-referenced-by-count":20,"title":["Similarity of geleophysic dysplasia and weill\u2013marchesani syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Aaina","family":"Kochhar","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salman","family":"Kirmani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Cetta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Younge","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Hyland","sequence":"additional","affiliation":[{"name":"Connective Tissue Gene Tests Allentown Philadelphia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Michels","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,24]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"335","article-title":"Secondary glaucoma in the Weill\u2013Marchesani syndrome","volume":"37","author":"Bosun I","year":"1993","journal-title":"Oftalmologia"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/425231"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20289"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(74)90685-0"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31337"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.011"},{"key":"e_1_2_4_10_1","first-page":"174","article-title":"Weill\u2013Marchesani syndrome","volume":"7","author":"Paton D","year":"1971","journal-title":"Birth defects original article series"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)92073-3"},{"key":"e_1_2_4_12_1","first-page":"389","volume-title":"Bone dysplasias\u2014An atlas of genetic disorders of skeletal development","author":"Spranger JW","year":"2002"}],"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.36147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36147","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T10:14:45Z","timestamp":1694686485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,24]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/ajmg.a.36147"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36147","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,24]]}}}