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: Mesomelic limb shortness: a previously unreported autosomal recessive type.
    Author: Reardon W, Hall CM, Slaney S, Huson SM, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter RM.
    Journal: Am J Med Genet; 1993 Oct 01; 47(5):788-92. PubMed ID: 8267013.
    Abstract:
    We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.
    [Abstract] [Full Text] [Related] [New Search]