{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:18Z","timestamp":1761717978286},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T00:00:00Z","timestamp":1126483200000},"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":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gomez\u2010Lopez\u2010Hernandez syndrome, or cerebello\u2010trigeminal\u2010dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto\u2010occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies. It has been reported in ten patients, five of whom are Brazilian. Rhombencephalosynapsis is a rare sporadic cerebellar anomaly comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Rhombencephalosynapsis is a constant feature of Gomez\u2010Lopez\u2010Hernandez syndrome. We present the clinical and imaging findings of a Caucasian male infant with Gomez\u2010Lopez\u2010Hernandez syndrome. Rhombencephalosynapsis was diagnosed with fetal magnetic resonance imaging (MRI) after an abnormally shaped small cerebellum was detected by antenatal ultrasound (US). Gomez\u2010Lopez\u2010Hernandez syndrome was diagnosed at age 6 weeks when parietal alopecia was noted. Prenatal imaging studies of Gomez\u2010Lopez\u2010Hernandez syndrome have not been published before. When rhombencephalosynapsis is diagnosed prenatally, the clinical features of Gomez\u2010Lopez\u2010Hernandez syndrome should be sought at postnatal review. Gomez\u2010Lopez\u2010Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30967","type":"journal-article","created":{"date-parts":[[2005,9,13]],"date-time":"2005-09-13T00:46:41Z","timestamp":1126572401000},"page":"369-373","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal magnetic resonance imaging in Gomez\u2010Lopez\u2010Hernandez syndrome and review of the literature"],"prefix":"10.1002","volume":"138A","author":[{"given":"Tiong Yang","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"McGillivray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy K.","family":"Goergen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,9,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.70.835.9245891"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.acn.2005.02.003"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20662"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001023)94:5<405::AID-AJMG12>3.0.CO;2-8"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588525"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(79)80039-X"},{"key":"e_1_2_5_8_1","unstructured":"GomyI HeckB MartinelliC De Pina\u2010NetoJM BatistaLM CescatoMP FerrazVE.2004.Gomez\u2010Lopez\u2010Hernandez Syndrome: Description of two more Brazilian Cases. Is there any coincidence?Poster at Annual American Society of Human Genetics Meeting (abstract only)."},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2000.93.2.0323"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0582"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688192"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1059606"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0197-9"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690631"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050884"},{"key":"e_1_2_5_16_1","first-page":"560","volume-title":"The developing human: Clinically oriented embryology","author":"Moore KL","year":"2003"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<34::AID-AJMG7>3.0.CO;2-V"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-200411000-00006"},{"key":"e_1_2_5_19_1","first-page":"680","article-title":"Displasia cerebelotrigeminal","volume":"1","author":"Pascual\u2010Castroviejo I","year":"1983","journal-title":"Neurologia Infantil, Barcelona. 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