{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:26:42Z","timestamp":1763036802598},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"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>Rhombencephalosynapsis (RES) is a rare hindbrain malformation that could occur in isolation or as a part of a syndrome for example, G\u00f3mez\u2010L\u00f3pez\u2010Hern\u00e1ndez syndrome (GLH) or VACTERL\u2010H. We identified male patient with severe RES. Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He had brachyturricephaly, midface retrusion, low\u2010set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. Interestingly, he additionally had bilateral bipartite parietal bone (BPB) that is an extremely rare anomaly of the parietal sutures. This is the first co\u2010occurrence of this rare anomaly with GLH. We believe the presence of this unique finding could represent an important clue for understanding the pathogenesis of this malformation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36276","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:18:44Z","timestamp":1386274724000},"page":"480-483","source":"Crossref","is-referenced-by-count":5,"title":["G\u00f3mez\u2010L\u00f3pez\u2010hern\u00e1ndez syndrome versus rhombencephalosynapsis spectrum: A rare co\u2010occurrence with bipartite parietal bone"],"prefix":"10.1002","volume":"164","author":[{"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sawsan","family":"Abdel\u2010Hadi","sequence":"additional","affiliation":[{"name":"Pediatric Department 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