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We describe two distantly related Pakistani children with classical features of geleophysic dysplasia. Pulmonary stenosis was recognized in both within a few months of birth. The younger child shows no signs of cardiac decompensation at the age of 7 years whilst her older cousin has developed a significant pulmonary gradient requiring surgical intervention in the second decade of life. The natural history of his disorder highlights that the cardiac involvement seen in apparently stable forms of geleophysic dysplasia is frequently progressive. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30450","type":"journal-article","created":{"date-parts":[[2004,12,7]],"date-time":"2004-12-07T22:16:17Z","timestamp":1102457777000},"page":"320-323","source":"Crossref","is-referenced-by-count":24,"title":["Natural history of cardiac involvement in geleophysic dysplasia"],"prefix":"10.1002","volume":"132A","author":[{"given":"A.","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Yeung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.F.","family":"Dickinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Karbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,7]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"100","article-title":"Perthes\u2010like changes in geleophysic dysplasia","volume":"11","author":"Keret D","year":"2002","journal-title":"J Pediatr Orthop B"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190309"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280522"},{"key":"e_1_2_4_5_1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/s00402-002-0390-y","article-title":"Multiple trigger fingers associated with geleophysic dysplasia","volume":"122","author":"Matsui Y","year":"2002","journal-title":"Arch Orthop Trauma Surg"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<50::AID-AJMG11>3.0.CO;2-T"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199711)17:11<1067::AID-PD180>3.0.CO;2-R"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580304"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<85::AID-AJMG18>3.0.CO;2-Q"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80534-7"},{"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","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190310"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190311"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<82::AID-AJMG16>3.0.CO;2-O"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.21.1.80"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350202"}],"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.30450","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30450","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30450","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:41:08Z","timestamp":1697658068000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,7]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,1,30]]}},"alternative-id":["10.1002\/ajmg.a.30450"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30450","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,7]]}}}