{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:42:23Z","timestamp":1789897343266,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Ghent University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Craniosynostosis, caused by early fusion of one or more cranial sutures, can affect the coronal or lambdoid sutures, or include premature fusion of the sagittal (scaphocephaly) or metopic suture (trigonocephaly). Often occurring as isolated finding, their co\u2010existence in a craniosynostosis syndrome is infrequent. We describe a four\u2010generation family with variable expression of a craniosynostosis phenotype with scaphocephaly and a particularly severe trigonocephaly. Molecular analysis revealed a missense mutation in the MSX2\u2014associated with the Boston\u2010type craniosynostosis syndrome\u2014affecting the same amino\u2010acid residue as in the original Boston family. Besides unique features such as the cranial sutures involved, minor limb abnormalities and incomplete penetrance, our patients share with the original family autosomal dominant inheritance and the presence of multiple endocranial erosions on CT imaging. Though these findings appear to be important diagnostic clues for MSX2\u2010related craniosynostosis, it is noteworthy that the first affected generation in this family presented merely with isolated sagittal or unicoronal craniosynostosis and cutaneous syndactyly. Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly\/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36077","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T20:36:50Z","timestamp":1375735010000},"page":"2352-2357","source":"Crossref","is-referenced-by-count":18,"title":["Second family with the boston\u2010type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum"],"prefix":"10.1002","volume":"161","author":[{"given":"Alexander","family":"Janssen","sequence":"first","affiliation":[{"name":"Department of Neurosurgery Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad J.","family":"Hosen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Jeannin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jan Palfijn Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier M.","family":"Vanakker","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32092"},{"key":"e_1_2_6_3_1","unstructured":"BernierV Ghassib\u00e9M BoonLM VikkulaM.2004. A novel loss of function mutation in the MSX2 homeobox gene in a family with foramina parietalia permagna (PFM) [abstract]. 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