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: The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
    Author: Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM.
    Journal: Clin Dysmorphol; 2003 Oct; 12(4):269-74. PubMed ID: 14564217.
    Abstract:
    Patients affected by Pfeiffer syndrome generally present with syndromic craniosynostosis and typical limb defects including broad thumbs, wide halluces with varus deformity, toe syndactyly and sometimes elbow ankylosis. This autosomal dominant condition can be caused by mutations in either fibroblast growth factor receptor gene type 1 or 2 (FGFR1 or FGFR2). We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome. In one family this was the only abnormality.
    [Abstract] [Full Text] [Related] [New Search]