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: Patterson-Lowry rhizomelic dysplasia: report of two new patients.
    Author: Franceschini P, Licata D, Guala A, Ingrosso G, Di Cara G, Franceschini D.
    Journal: Am J Med Genet A; 2004 May 15; 127A(1):86-92. PubMed ID: 15103724.
    Abstract:
    We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment.
    [Abstract] [Full Text] [Related] [New Search]