{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T18:56:59Z","timestamp":1786388219636,"version":"build-2736575974"},"reference-count":49,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP\u201410266"],"award-info":[{"award-number":["MOP\u201410266"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Marden\u2013Walker syndrome is challenging to diagnose, as there is significant overlap with other multi\u2010system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1\u2010Deficient Ehlers\u2013Danlos syndrome (adducted thumb\u2010clubfoot syndrome), Schwartz\u2013Jampel syndrome, Freeman\u2013Sheldon syndrome, Cerebro\u2010oculo\u2010facio\u2010skeletal syndrome, and Van den Ende\u2013Gupta syndrome. We discuss this differential diagnosis in the context of a boy from a consanguineous union with Van den Ende\u2013Gupta syndrome, a diagnosis initially confused by the atypical presence of intellectual disability. SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in <jats:italic>SCARF2<\/jats:italic> and predicted damaging mutations in several genes, most notably <jats:italic>DGCR2<\/jats:italic> (p.P75L) and <jats:italic>NCAM2<\/jats:italic> (p.S147G), both possible candidates for this child's intellectual disability. We review distinguishing features for each Marden\u2013Walker\u2010like syndrome and propose a clinical algorithm for diagnosis among this spectrum of disorders. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37831","type":"journal-article","created":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T05:43:20Z","timestamp":1467611000000},"page":"2310-2321","source":"Crossref","is-referenced-by-count":14,"title":["Diagnosis of Van den Ende\u2013Gupta syndrome: Approach to the Marden\u2013Walker\u2010like spectrum of disorders"],"prefix":"10.1002","volume":"170","author":[{"given":"Karen Y.","family":"Niederhoffer","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayyeh","family":"Fahiminiya","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Pediatrics, McGill University 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