[The patella-nail syndrome. Study of 2 families].
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.
Adam
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Klinik für Radiologische Diagnostik, Klinikum der RWTH Aachen.
Alzen
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G
Ittel
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TH
D000293:Adolescent; D000328:Adult; D002648:Child; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
Das Patella-Nagel-Syndrom. Untersuchung von zwei Familien.