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: Ophthalmologic findings in the fragile X syndrome.
    Author: Storm RL, PeBenito R, Ferretti C.
    Journal: Arch Ophthalmol; 1987 Aug; 105(8):1099-102. PubMed ID: 3632420.
    Abstract:
    The fragile X (Fra[X]) syndrome is a commonly encountered X-linked recessive chromosomal disorder associated with mental retardation that primarily affects males. The demonstration of a fragile site in the long arm of the X chromosome (Xq27-28) through special culture techniques confirms the diagnosis. Phenotypic features are often lacking, especially in early life. We studied the ophthalmologic and clinical characteristics of 15 patients (13 male and two female) with the Fra(X) syndrome and reviewed the clinical picture of the disorder. Strabismus was the most prevalent ophthalmologic abnormality and was observed in six patients. The frequent occurrence of strabismus in our series suggests that it is a commonly associated abnormality. It is recommended that the Fra(X) syndrome be added to the list of genetic and dysmorphic disorders with which strabismus is frequently associated.
    [Abstract] [Full Text] [Related] [New Search]