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: Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
    Author: Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.
    Journal: Am J Med Genet A; 2008 Nov 01; 146A(21):2804-9. PubMed ID: 18831060.
    Abstract:
    Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome.
    [Abstract] [Full Text] [Related] [New Search]