title: The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
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.
authors.affiliation: Clinical & Molecular Genetics Unit, Level 5 Camelia Botnar Labs, Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.forename: Rachel L
authors.initials: RL
authors.lastname: Jones
authors.forename: Gail
authors.initials: G
authors.lastname: Norbury
authors.forename: Agnès
authors.initials: A
authors.lastname: Bloch-Zupan
authors.forename: Robin M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D035781:Siblings
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1