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: Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.
    Author: Bieganski T, Dawydzik B, Kozlowski K.
    Journal: Eur J Pediatr; 1999 Oct; 158(10):809-14. PubMed ID: 10486082.
    Abstract:
    UNLABELLED: A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. CONCLUSION: These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.
    [Abstract] [Full Text] [Related] [New Search]