{"id":{"repo_id":"radboud","oai_identifier":"oai:repository.ubn.ru.nl:2066/26983"},"canonical_url":"https://search.dev.ndltd.org/etd/radboud/oai:repository.ubn.ru.nl:2066/26983","repository":{"repo_id":"radboud","name":"Radboud University Nijmegen","base_url":"https://repository.ubn.ru.nl/oai/request"},"display":{"title":"Möbius syndrome. A clinical, radiological, neurophysiological, genetic and neuropathological study.","abstract":"Contains fulltext : 26983_mobisy.pdf (Publisher’s version ) (Open Access)","abstract_html":"Contains fulltext : 26983_mobisy.pdf (Publisher’s version ) (Open Access)","abstract_has_math":false,"creators":["Verzijl, H.T.F.M."],"institution":"S.l. : s.n.","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Padberg, G.W.A.M."],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2005,"date_issued":"2005","date_published":"2005","updated_at":"2026-07-24T04:00:54Z","subjects":["UMCN 3.1: Neuromuscular development and genetic disorders"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["9090196935"],"render_values":[{"text":"9090196935","href":null,"code":true}]}]},"links":{"outbound_url":"http://hdl.handle.net/2066/26983","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Padberg, G.W.A.M."]},{"key":"dc:creator","label":"Author","values":["Verzijl, H.T.F.M."]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2005"]},{"key":"dc:publisher","label":"Institution","values":["S.l. : s.n."]},{"key":"dc:type","label":"Dc Type","values":["Doctoral thesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["UMCN 3.1: Neuromuscular development and genetic disorders"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://repository.ubn.ru.nl//bitstream/handle/2066/26983/26983_mobisy.pdf","http://hdl.handle.net/2066/26983","9090196935"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Contains fulltext : 26983_mobisy.pdf (Publisher’s version ) (Open Access)","The overall conclusion of this study is that the Möbius condition contains two distinct disorders: Firstly, an autosomal disorder which can be best described as hereditary congenital facial palsy. Secondly, a disorder for which we reserve the name Möbius syndrome and is characterized by congenital facial palsy with impairment of ocular abduction; while dysfunction of other cranial nerves, orofacial malformations, limb malformations, and musculoskeletal system defects are frequently associated features, they are not obligatory for the diagnosis. We came to this conclusion on clinical grounds, and confirmed it by neuropathological findings consisting of hypoplasia of the facial motor nuclei in hereditary congenital facial palsy and, in contrast, of hypoplasia of the entire brainstem in Möbius syndrome. Also, genetically the disorders seem not to be identical since the genetical loci for hereditary congenital facial palsy have been excluded as a major cause in Möbius syndrome. Further, our results allowed us to postulate a new concept for the narrow definition of Möbius syndrome: A complex regionally developmental disorder of the rhombencephalon involving predominantly motor nuclei and axons, as well as traversing long tracts rather than of the cranial nerve nuclei only. This concept was suggested based on the spectrum of clinical characteristics, and was confirmed neuropathologically and radiologically by demonstrating brainstem hypoplasia and other congenital brain abnormalities, as well as by electrophysiological study showing a spectrum of disturbances variable in degree of severity and diverse in extent of structures involved at the supranuclear and the facial nuclear level.","RU Radboud Universiteit Nijmegen, 09 september 2005","Promotor : Padberg, G.W.A.M.","243 p."]},{"key":"dc:title","label":"Title","values":["Möbius syndrome. A clinical, radiological, neurophysiological, genetic and neuropathological study."]}]}],"canonical_facts":{"dc:contributor":["Padberg, G.W.A.M."],"dc:creator":["Verzijl, H.T.F.M."],"dc:date":["2005"],"dc:description":["Contains fulltext : 26983_mobisy.pdf (Publisher’s version ) (Open Access)","The overall conclusion of this study is that the Möbius condition contains two distinct disorders: Firstly, an autosomal disorder which can be best described as hereditary congenital facial palsy. Secondly, a disorder for which we reserve the name Möbius syndrome and is characterized by congenital facial palsy with impairment of ocular abduction; while dysfunction of other cranial nerves, orofacial malformations, limb malformations, and musculoskeletal system defects are frequently associated features, they are not obligatory for the diagnosis. We came to this conclusion on clinical grounds, and confirmed it by neuropathological findings consisting of hypoplasia of the facial motor nuclei in hereditary congenital facial palsy and, in contrast, of hypoplasia of the entire brainstem in Möbius syndrome. Also, genetically the disorders seem not to be identical since the genetical loci for hereditary congenital facial palsy have been excluded as a major cause in Möbius syndrome. Further, our results allowed us to postulate a new concept for the narrow definition of Möbius syndrome: A complex regionally developmental disorder of the rhombencephalon involving predominantly motor nuclei and axons, as well as traversing long tracts rather than of the cranial nerve nuclei only. This concept was suggested based on the spectrum of clinical characteristics, and was confirmed neuropathologically and radiologically by demonstrating brainstem hypoplasia and other congenital brain abnormalities, as well as by electrophysiological study showing a spectrum of disturbances variable in degree of severity and diverse in extent of structures involved at the supranuclear and the facial nuclear level.","RU Radboud Universiteit Nijmegen, 09 september 2005","Promotor : Padberg, G.W.A.M.","243 p."],"dc:identifier":["https://repository.ubn.ru.nl//bitstream/handle/2066/26983/26983_mobisy.pdf","http://hdl.handle.net/2066/26983","9090196935"],"dc:publisher":["S.l. : s.n."],"dc:subject":["UMCN 3.1: Neuromuscular development and genetic disorders"],"dc:title":["Möbius syndrome. A clinical, radiological, neurophysiological, genetic and neuropathological study."],"dc:type":["Doctoral thesis"]},"updated_at":"2026-07-24T04:00:54Z"}