{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:08:32Z","timestamp":1790820512332,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,2,23]],"date-time":"2017-02-23T00:00:00Z","timestamp":1487808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"FRM (Fondation pour la Recherche M\u00e9dicale)","award":["DEQ20120323703"],"award-info":[{"award-number":["DEQ20120323703"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and\/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (<jats:styled-content style=\"fixed-case\">PG<\/jats:styled-content>). In a series of 30 patients with multiple dislocations, we have performed exome sequencing and subsequent targeted analysis of 15 genes, implicated in chondrodysplasia with multiple dislocations, and related conditions. We have identified causative pathogenic variants in 60% of patients (18\/30); when a clinical diagnosis was suspected, this was molecularly confirmed in 53% of cases. Forty percent of patients remain without molecular etiology. Pathogenic variants in genes implicated in <jats:styled-content style=\"fixed-case\">PG<\/jats:styled-content> synthesis are of major importance in chondrodysplasia with multiple dislocations and related conditions. The combination of hand features, growth failure severity, radiological aspects of long bones and of vertebrae allowed discrimination among the different conditions. We propose key diagnostic clues to the clinician.<\/jats:p>","DOI":"10.1111\/cge.12885","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T02:25:42Z","timestamp":1476411942000},"page":"868-880","source":"Crossref","is-referenced-by-count":24,"title":["Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases"],"prefix":"10.1111","volume":"91","author":[{"given":"E.","family":"Ranza","sequence":"first","affiliation":[{"name":"Department of Genetics, INSERM UMR1163 Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9, Institut Imagine, H\u00f4pital Necker Enfants Malades (AP\u2010HP)  Paris France"},{"name":"Service of Genetic Medicine University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Huber","sequence":"additional","affiliation":[{"name":"Department of Genetics, INSERM UMR1163 Universit\u00e9 Paris Descartes\u2010Sorbonne Paris 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