Hereditary chondrocalcinosis in an Ashkenazi Jewish family.
AUTOR(ES)
Eshel, G
RESUMO
A hereditary chondrocalcinosis is described for the first time in an Ashkenazi Jewish kindred. Of 34 family members in five generations, seven had medical history suggesting the disease. Five of 25 members of generations III-V had direct evidence for their disease. Characteristically, symptoms started at a fairly early age (third decade) while radiological evidence of chondrocalcinosis was delayed to the fourth decade. Joints commonly affected were knees, wrists, and elbows. The course was chronic with acute, exercise induced exacerbations.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1004143Documentos Relacionados
- The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population
- Hereditary coproporphyria: incidence in a large English family.
- Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
- Hereditary spastic ataxia with congenital miosis: four cases in one family.
- Cerebral abscess in hereditary haemorrhagic telangiectasia: report of two cases in a family.