{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:31:50Z","timestamp":1790271110672,"version":"4.1.0"},"reference-count":54,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,9,10]],"date-time":"2012-09-10T00:00:00Z","timestamp":1347235200000},"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":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with G\u00f3mez\u2010L\u00f3pez\u2010Hern\u00e1ndez syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic assessment, and statistical analysis. We assessed 53 patients. Thirty\u2010three had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features, and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES\u2010associated malformations rather than a collection of discrete syndromes. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35561","type":"journal-article","created":{"date-parts":[[2012,9,10]],"date-time":"2012-09-10T20:22:10Z","timestamp":1347308530000},"page":"2393-2406","source":"Crossref","is-referenced-by-count":44,"title":["Beyond G\u00f3mez\u2010L\u00f3pez\u2010Hern\u00e1ndez syndrome: Recurring phenotypic themes in rhombencephalosynapsis"],"prefix":"10.1002","volume":"158A","author":[{"given":"Hannah M.","family":"Tully","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C.","family":"Dempsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisele 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