These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
    Author: Sánchez JM, Kaminker CP.
    Journal: Am J Med Genet; 1986 Nov; 25(3):507-11. PubMed ID: 3789012.
    Abstract:
    We report on two sibs (a boy and a girl) with the Freeman-Sheldon (FS) syndrome (also called cranio-carpo-tarsal "dysplasia" or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that suppressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.
    [Abstract] [Full Text] [Related] [New Search]