{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:09:12Z","timestamp":1792166952808,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T00:00:00Z","timestamp":1427155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>New forms and varieties of craniosynostoses are continuously identified due to the current increased interest of clinicians and genetists especially since the introduction of microarray\u2010based comparative genomic hybridization (Array\u2010CGH) techniques in the diagnostic setting of patients with craniofacial anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this report, we describe the case of an infant who associated the early fusion of the metopic and both the coronal sutures. The interaction of the early fusion of the anterior group of the main cranial sutures gave the infant a particular clinical phenotypes with a Y configuration of the frontal bone and a globally reduced size of the skull. Such a deformity was observed in utero and was subsequently confirmed by the postnatal imaging of the head.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This phenotype was never described previously in antenatal period to our knowledge. The array\u2010CGH showed a heterozygous 9.0 Mb deletion in the chromosomal region 7p21.1p21.3 encompassing approximately 25 other genes, spanning from THSD7A to <jats:italic>TWIST1\/FERD3L<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case further illustrates the variability of the clinical spectrum of craniofacial disorders associated with <jats:italic>TWIST1<\/jats:italic> abnormalities. It is important to note that the Saethre\u2010Chotzen syndrome caused by microdeletion is generally characterized by a mental disability. However, of interest, the postoperative psychomotor development of the child considered hereby was within the normal limits. Birth Defects Research (Part A) 103:306\u2013310, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23367","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T21:55:35Z","timestamp":1427234135000},"page":"306-310","source":"Crossref","is-referenced-by-count":6,"title":["Y\u2010craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre\u2010Chotzen syndrome?"],"prefix":"10.1002","volume":"103","author":[{"given":"Federico","family":"di Rocco","sequence":"first","affiliation":[{"name":"Unit\u00e9 de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de R\u00e9f\u00e9rence National Dysostoses Cr\u00e2niofaciales, H\u00f4pital Necker Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Benoit","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Chirurgie Craniofaciale, Service de Neurochirurgie, 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