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.
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Syndactyly of the feet, characteristically affecting digits 2-5 with a wide sandal gap with digit 1, seems to be the most characteristic feature of FGFR1-related Pfeiffer syndrome.
“Syndactyly of the feet, characteristically affecting digits 2-5 with a wide sandal gap with digit 1, seems to be the most characteristic feature.34”
From Craniosynostosis (2011) · cites this paper as [34]
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- Authors
- Rossi, M., Jones, R. L., Norbury, G., Bloch-Zupan, A., & Winter, R. M.
- Affiliations
- Great Ormond Street Hospital (GB)
- Corresponding author
- Winter, Robin M.
- Venue
- Clinical Dysmorphology
- Published
- 2003-10
- Volume
- 12
- Issue
- 4
- Pages
- 269-274
- ISSN
- 0962-8827 (ISSN-L)
- OpenAlex
- W1987672747
- Cited by
- 42
- References
- 14
- Citations by year
- 2024: 1 · 2021: 2 · 2020: 1 · 2018: 2 · 2017: 3 · 2016: 3 · 2015: 3 · 2014: 6 · 2013: 2 · 2012: 5
- FWCI
- 0.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Dysmorphology (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- Pfeiffer syndrome, FGFR1, FGFR2, foot malformation, syndromic craniosynostosis, autosomal dominant inheritance, hallux varus, limb malformations
- MeSH terms
- Acrocephalosyndactylia, Child, Preschool, Female, Foot Deformities, Congenital, Humans, Point Mutation, Receptors, Fibroblast Growth Factor, Receptor Protein-Tyrosine Kinases, Siblings, Receptor, Fibroblast Growth Factor, Type 1
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