{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T19:31:28Z","timestamp":1790451088985,"version":"4.1.0"},"reference-count":13,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar presentation triggered review of the sisters\u2019 visual behaviour. Each had developed an unusual but similar form of oculomotor apraxia (OMA) with head thrusts to<jats:italic>maintain<\/jats:italic>fixation rather than to<jats:italic>change<\/jats:italic>fixation. MRI of the older sibling demonstrated the characteristic \u201cmolar tooth sign\u201d (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling. We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders. Clinicians need to consider this group of disorders when faced with unusual eye movements in the developmentally delayed child.<\/jats:p>","DOI":"10.1155\/2011\/262641","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T21:00:33Z","timestamp":1327611633000},"page":"1-5","source":"Crossref","is-referenced-by-count":3,"title":["Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia"],"prefix":"10.1155","volume":"2011","author":[{"given":"Harjinder","family":"Gill","sequence":"first","affiliation":[{"name":"Community Paediatrics, The Children's Hospital, Oxford University Hospitals, Headley Way, Headington, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brinda","family":"Muthusamy","sequence":"additional","affiliation":[{"name":"Paediatric Ophthalmology and Adult Strabismus, The Wilmer Eye Institute at Johns Hopkins, 600 North Wolfe Street, Baltimore, MD 21287, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denize","family":"Atan","sequence":"additional","affiliation":[{"name":"Academic Department of Ophthalmology, School of Clinical Sciences, Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Williams","sequence":"additional","affiliation":[{"name":"Centre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Ellis","sequence":"additional","affiliation":[{"name":"Centre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"issue":"3","key":"1","first-page":"302","volume":"18","year":"1968","journal-title":"Neurology"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201648"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.10.001"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1006\/cbir.1996.0011"},{"issue":"10","key":"6","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/humu.21337","volume":"31","year":"2010","journal-title":"Human Mutation"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30229"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2009.06.002"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2009.116"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162204001161"},{"issue":"10","key":"12","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1177\/088307389901401001","volume":"14","year":"1999","journal-title":"Journal of Child Neurology"},{"issue":"5","key":"13","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1001\/archopht.1989.01070010727035","volume":"107","year":"1989","journal-title":"Archives of Ophthalmology"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2011\/262641.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2011\/262641.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2011\/262641.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T13:22:42Z","timestamp":1497964962000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/cripe\/2011\/262641\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":13,"alternative-id":["262641","262641"],"URL":"https:\/\/doi.org\/10.1155\/2011\/262641","relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}