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: Freeman-Sheldon syndrome. A case report and review of the literature.
    Author: Ferrari D, Bettuzzi C, Donzelli O.
    Journal: Chir Organi Mov; 2008 Sep; 92(2):127-31. PubMed ID: 18677448.
    Abstract:
    The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation. The symptomatology is worsened by breathing and swallowing disorders due to the small orifices of the mouth and nose, which sometimes require tracheotomy to avoid obstruction of the airways.
    [Abstract] [Full Text] [Related] [New Search]