{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:53:47Z","timestamp":1777884827980,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 ( FBN1) gene. Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. The 1st mutation was probably a pathogenic one, c.[1934G&gt;A] p.[Arg645His], located in exon 13; the 2nd, in intron 8, was probably changing a splice site. While the light and electron microscopic findings were similar to those previously described, hydrocephalus due to aqueductal stenosis might be a new associated finding in these patients. This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease.<\/jats:p>","DOI":"10.2350\/13-08-1370-cr.1","type":"journal-article","created":{"date-parts":[[2013,11,19]],"date-time":"2013-11-19T14:51:40Z","timestamp":1384872700000},"page":"209-216","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel Mutations in Geleophysic Dysplasia Type 1"],"prefix":"10.1177","volume":"17","author":[{"given":"Prashob","family":"Porayette","sequence":"first","affiliation":[{"name":"Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Fruitman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Alberta Children's Hospital, Alberta, Calgary, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie L.","family":"Lauzon","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Alberta Children's Hospital, Alberta, Calgary, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Le Goff","sequence":"additional","affiliation":[{"name":"Institut de Recherche, Necker Enfants Malades, Paris, Cedex 15, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"Department of Pathology, Alberta Children's Hospital, Alberta, Calgary, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P.","family":"Sanders","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 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