{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:01:54Z","timestamp":1771264914966,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,5]],"date-time":"2013-11-05T00:00:00Z","timestamp":1383609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Loeys\u2013Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the <jats:italic>TGF\u03b2R2<\/jats:italic> gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital abnormalities, including brachydactyly, camptodactyly, partial syndactyly and absent distal phalanges. With the lack of fibrillin\u20101 microfibril deposition as well as impaired and inadequate elastic fiber assembly in our patient's fibroblasts, we speculate that the skeletal abnormalities seen in this patient with LDS are the result of lack of these components in embryonal perichondrium and in blood vessels. We suggest that LDS should be included in the differential diagnosis of joint contractures seen pre and postnatally. Prenatal diagnosis of LDS would be important in parental counseling and early post natal diagnosis could prompt treatment before the development of detrimental vascular complications. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36246","type":"journal-article","created":{"date-parts":[[2013,11,5]],"date-time":"2013-11-05T21:00:16Z","timestamp":1383685216000},"page":"461-466","source":"Crossref","is-referenced-by-count":7,"title":["Hand and fibrillin\u20101 deposition abnormalities in Loeys\u2013Dietz syndrome\u2014expanding the clinical spectrum"],"prefix":"10.1002","volume":"164","author":[{"given":"Brian H.Y.","family":"Chung","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Centre for Reproduction, Growth and Development, The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Bradley","sequence":"additional","affiliation":[{"name":"Division of Cardiology, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Grosse\u2010Wortmann","sequence":"additional","affiliation":[{"name":"Division of Cardiology, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Dirks","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander","family":"Hinek","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Research, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program University of Toronto Toronto Ontario 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