This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

A Family Detected by Cord Blood Tests

Evan A. Stein, MB BCh, FRCP(C)

Am J Dis Child. 1977;131(12):1363-1365.

Abstract
• A family with low-density lipoprotein (LDL) deficiency was detected during the course of screening cord blood samples. The initial diagnosis in the proband was based on the cord blood LDL cholesterol and lipoprotein electrophoretic pattern, and was confirmed by repeated studies at the age of 8 months. The infant had none of the clinical abnormalities previously ascribed to the condition. Further investigation did not disclose any other significant biochemical or histological abnormalities.

Hypo-β-lipoproteinemia was found to exist in the proband's mother and only sibling. Hence the diagnosis of familial hypo-β-lipoproteinemia is possible by unselected cord blood LDL cholesterol measurement and lipoprotein electrophoresis in conjunction with kindred studies.

(Am J Dis Child 131:1363-1365, 1977)

Author Affiliations
From the Lipid Disorders Clinic, Transvaal Memorial Hospital for Children, Johannesburg, South Africa, and the Lipid Research Clinic, University of Cincinnati Medical Center.

Footnotes
Reprint requests to Lipid Research Clinic, University of Cincinnati Medical Center, 234 Goodman St, Cincinnati, OH 45267 (Dr Stein).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?