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: Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.
    Author: Roifman CM, Chitayat D.
    Journal: Clin Genet; 2009 Nov; 76(5):449-57. PubMed ID: 19863561.
    Abstract:
    Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology.
    [Abstract] [Full Text] [Related] [New Search]