[A female patient with Werner's syndrome].
We describe a 42-year old female with Werner's syndrome, an autosomal recessive connective tissue disorder, characterised, in her case, by juvenile cataract, chronic ulcers on the feet, characteristic skin changes, a typical appearance of the face ('bird-like face'), severe deformities of the feet, generalised osteoporosis, soft tissue calcifications and a high pitched hoarse voice. Werner's syndrome has to be distinguished from systemic sclerosis in particular. No causal therapy is available.
ter Borg
E J
EJ
St. Antonius Ziekenhuis, afd. Reumatologie/Interne Geneeskunde, Nieuwegein.
van der Horst
J C
JC
Meijer
J W
JW
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011379:Prognosis; D011859:Radiography; D012595:Scleroderma, Systemic / Q000175:diagnosis; D012867:Skin / Q000473:pathology; D014898:Werner Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology
Een patiënte met het syndroom van Werner.