Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.
Eur J Dermatol
; 17(3): 213-6, 2007.
Article
em En
| MEDLINE
| ID: mdl-17478382
ABSTRACT
Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities. WS frequency has been roughly estimated to be 1 100,000 in Japan and 1 1,000,000-1 10,000,000 outside of Japan. The only exception to the latter data can be seen in the clustering of WS in Sardinia. Since 2001, 5 new cases have been observed 4 members of the same family and 1 sporadic case. Therefore, since 1982 the total number of cases described in North Sardinia amounts to 18 15 are familial (11 members of the same family group) and 3 sporadic. A short clinical description of the 5 new cases is reported.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Werner
/
RecQ Helicases
Tipo de estudo:
Screening_studies
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Eur J Dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Itália