{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T13:42:26Z","timestamp":1775914946544,"version":"3.50.1"},"reference-count":53,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,3,26]],"date-time":"2022-03-26T00:00:00Z","timestamp":1648252800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Jean Renny Endowment for Craniofacial Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2022,3,26]]},"abstract":"<jats:p>Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys\u2013Dietz syndrome (LDS) and Shprintzen\u2013Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation\/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes.<\/jats:p>","DOI":"10.1155\/2022\/3239260","type":"journal-article","created":{"date-parts":[[2022,3,26]],"date-time":"2022-03-26T21:05:05Z","timestamp":1648328705000},"page":"1-8","source":"Crossref","is-referenced-by-count":5,"title":["Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5748-905X","authenticated-orcid":true,"given":"Jonas","family":"Gustafson","sequence":"first","affiliation":[{"name":"Seattle Children\u2019s Research Institute, Center for Developmental Biology and Regenerative Medicine, Seattle, WA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bjork","sequence":"additional","affiliation":[{"name":"N\u00e4rh\u00e4lsan \u00c5g\u00e5rdsskogens V\u00e5rdcentral, Lidk\u00f6ping, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conny M. 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