PEDIATRICS Vol. 43 No. 3 March 1969, pp. 455-459
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hould, F.
Right arrow Articles by Marcoux, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hould, F.
Right arrow Articles by Marcoux, J.

ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA WITH XANTHOMATOSIS

Fernand Hould M.D., F.R.C.P., F.A.A.P.1, Roland Leclerc M.D.1, and Jean Marcoux M.D.1

1 Department of Pediatrics, Laval Medical School, Quebec, Canada and Pediatrics Service of Enfant-Jesus Hospital, Quebec City, Canada

Hyperbetalipoproteinemia, a syndrome characterized by an increased level of low density lipoproteins and their associated lipid components, is frequently manifested externally by xantholasma and xanthomata tendinosum and/or xanthoma tuberosum. A large kindred of 57 living members was extensively investigated and is described in detail in view of the rarity of such observations. Concerning the inheritance of such familial hypercholesterolemia, this study lends support to Wilkinson's views suggesting that severe generalized xanthomatosis is evidence of homozygosity.

Submitted on May 12, 1966