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

Search MEDLINE/PubMed


  • Title: Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder.
    Author: Mathieu M, Goldfarb A, Berquin P, Boudailliez B, Labeille B, Piussan C.
    Journal: Genet Couns; 1991; 2(2):115-8. PubMed ID: 1781955.
    Abstract:
    Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable chromosomal defect. The present report of two brothers of healthy parents with negative familial history suggests an autosomal recessive mode of inheritance of this entity.
    [Abstract] [Full Text] [Related] [New Search]