title: Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome).
abstract: Two patients with oro-facio-digital syndrome type II (OFD-II, Mohr syndrome) with associated cerebellar atrophy are described. Three other cases of the Mohr syndrome with cerebellar abnormalities are cited from the literature. Cerebellar involvement seems to be a clinical feature of this syndrome. Unfortunately, there is a lack of CNS reports for many of the previously described patients. In all cases with this entity, careful neurological and radiological examinations of the cerebellum are recommended.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Annerén
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: S
authors.initials: S
authors.lastname: Jòzwiak
authors.forename: S
authors.initials: S
authors.lastname: Kjartansson
authors.forename: B
authors.initials: B
authors.lastname: Strömberg
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification*; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000235:genetics / Q000473:pathology; D014057:Tomography, X-Ray Computed