title: [The patella-nail syndrome. Study of 2 families].
abstract: The radiological and clinical features of two families with a nail-patella syndrome are described. Our findings emphasize the varying expressivity of the syndrome, which has an autosomal dominant mode of inheritance and a penetrance of 100%. It is important for the radiologist to be aware of the syndrome's stigmata so that renal failure can be detected as early as possible after the diagnosis of skeletal dysplasia.
authors.affiliation: Klinik für Radiologische Diagnostik, Klinikum der RWTH Aachen.
authors.forename: G
authors.initials: G
authors.lastname: Adam
authors.forename: G
authors.initials: G
authors.lastname: Alzen
authors.forename: T H
authors.initials: TH
authors.lastname: Ittel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
vernacular_title: Das Patella-Nagel-Syndrom. Untersuchung von zwei Familien.