Format

Send to:

Choose Destination
See comment in PubMed Commons below
Clin Dysmorphol. 2003 Oct;12(4):269-74.

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.

Author information

  • 1Clinical & Molecular Genetics Unit, Level 5 Camelia Botnar Labs, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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.

PMID:
14564217
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Write to the Help Desk