{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:41Z","timestamp":1777803641994,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T00:00:00Z","timestamp":1410393600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:p>Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H) syndrome is a rare hypomyelination disorder with around 40 cases reported worldwide. Children with hypomyelination, hypodontia, hypogonadotropic hypogonadism syndrome present with varying degrees of developmental delay with a spastic ataxic syndrome with delayed eruption of teeth along with disruption in the eruption sequence, hypogonadotropic hypogonadism, and a fluctuating clinical course with intercurrent infections and varying periods of stability. The disorder is caused by mutations in POL3A and POL3B genes and is collectively termed as pol III\u2013related leukodystrophies. Here we describe 2 children with hypomyelination, hypodontia, hypogonadotropic, hypogonadism syndrome and the association of multiple vertebral fusion anomalies in one of them, which has not been previously described in the literature. We conclude that the spectrum of the disorder is not limited to brain parenchyma alone and involves all the structures arising from neural ectoderm, and this needs further research.<\/jats:p>","DOI":"10.1177\/0883073814541470","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T20:33:29Z","timestamp":1410467609000},"page":"937-941","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies"],"prefix":"10.1177","volume":"30","author":[{"given":"Karthik","family":"Muthusamy","sequence":"first","affiliation":[{"name":"Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sniya V.","family":"Sudhakar","sequence":"additional","affiliation":[{"name":"Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sangeetha","family":"Yoganathan","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya Mary","family":"Thomas","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathew","family":"Alexander","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,9,11]]},"reference":[{"key":"bibr1-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000247666.28904.35"},{"key":"bibr2-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985137"},{"key":"bibr3-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.01.015"},{"key":"bibr4-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.07.008"},{"key":"bibr5-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-010-5598-0"},{"key":"bibr6-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812470737"},{"key":"bibr7-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq257"},{"key":"bibr8-0883073814541470","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814541470","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073814541470","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814541470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:14Z","timestamp":1777495034000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073814541470"}},"subtitle":["A Novel Association"],"short-title":[],"issued":{"date-parts":[[2014,9,11]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1177\/0883073814541470"],"URL":"https:\/\/doi.org\/10.1177\/0883073814541470","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,11]]}}}