{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T10:56:55Z","timestamp":1776164215735,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T00:00:00Z","timestamp":1580428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles, and dentate nuclei with vermian absence or hypogenesis. This anomaly can be isolated or part of a larger spectrum of cerebral abnormalities. At least 90 cases are described in the literature and it has been associated with VACTERL and Gomez\u2010Lopez\u2010Hernandez syndrome (GLHS). The most common congenital syndrome associated with RES is GLHS, a rare presumed genetic disorder with over 30 cases thus far described in the literature. No genetic cause has been identified for RES or GLHS. We report two probands diagnosed with GLHS based on clinical criteria. Each proband had RES and bi\u2010parietal scalp alopecia as well as neurologic findings and phenotypic features including trigeminal anesthesia, borderline hypertelorism, midface retrusion, and motor delay. Oliginucleotide\u2010SNP microarray on the male proband revealed a 1.05\u2009Mb copy duplication of uncertain clinical significance at 15q21.3 while oligonucleotide\u2010SNP microarray for the female proband did not reveal any abnormalities. Exome sequencing (ES) was performed on both patients and did not identify any variants that could explain the GLHS phenotype. To our knowledge, these are the first two patients with GLHS described in the literature to undergo ES. Both patients had mild neurologic manifestations requiring physical therapy in early life without known diagnostic cause. Patients found to have scalp alopecia or trigeminal anesthesia with gross motor delay should be evaluated for RES or GLHS as well as screened for associated syndromes and have a complete neurodevelopmental evaluation.<\/jats:p>","DOI":"10.1002\/ajmg.a.61496","type":"journal-article","created":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T11:58:02Z","timestamp":1580471882000},"page":"623-627","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic evaluation including exome sequencing of two patients with Gomez\u2010Lopez\u2010Hernandez syndrome: Case reports and review of the literature"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5162-0988","authenticated-orcid":false,"given":"Faith","family":"Lindsay","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Tennessee College of Medicine  Chattanooga Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilse","family":"Anderson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine University of Tennessee College of Medicine  Knoxville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"Gene Dx  Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Suhrbier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tennessee College of Medicine  Chattanooga Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tennessee College of Medicine  Chattanooga Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,31]]},"reference":[{"key":"e_1_2_9_2_1","article-title":"Rhomboencephalosynapsis","volume":"2017","author":"Arrigo S.","year":"2017","journal-title":"BML Case Reports"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"200","article-title":"Congenital abnormalities of the posterior fossa","volume":"35","author":"Bosemani T.","year":"2015","journal-title":"Journal of Digital Imaging"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/1971400915576665"},{"issue":"1","key":"e_1_2_9_5_1","first-page":"29","article-title":"Partial rhombencephalosynapsis","volume":"25","author":"Demaerel P.","year":"2004","journal-title":"AJNR. 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