title: [Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].
abstract: In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of "Francois syndrome" and of "Hallermann-Streiff syndrome". However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term "Ullrich-Fremerey-Dohna syndrome". In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revealed by pneumencephalography) were found.
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000150:complications; D006210:Hallermann's Syndrome / Q000150:complications*; D006801:Humans; D006948:Hyperkinesis / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*
vernacular_title: Dyskephalie-Katarakt-Hypotrichose-Syndrom (Synonyma: DCH; Ullrich-Fremerey-Dohna; Hallermann-Streiff; Francois). Beobachtung mit extrapyramidaler Störung und Demenz