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The feet in Crouzon syndrome
P J Anderson1, C M Hall, R D Evans
1Department of Craniofacial Surgery, Great Ormond Street Hospital for Children, London, UK.
Journal of Craniofacial Genetics and Developmental Biology
|January 1, 1997
Summary
Crouzon syndrome patients often exhibit subtle foot anomalies, including phalangeal and tarsal abnormalities, not always apparent during clinical exams. These findings highlight previously under-recognized skeletal dysplasia effects in craniosynostosis.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Crouzon syndrome is a craniosynostosis characterized by premature fusion of skull sutures.
- Skeletal anomalies are common in craniosynostosis, but foot involvement is less understood.
Purpose of the Study:
- To investigate the prevalence and nature of foot anomalies in patients with Crouzon syndrome.
- To compare foot anomalies in Crouzon syndrome with other FGFR2-related craniosynostosis syndromes.
Main Methods:
- Clinical examination of 18 Crouzon syndrome patients.
- Radiographic evaluation of feet by a skeletal dysplasia radiologist and craniofacial team.
Main Results:
- Subtle radiographic anomalies were observed in the phalanges, metacarpals, and tarsals of most patients.
- Only 3 out of 18 patients had radiographically normal feet.
- Foot anomalies are also present in other complex craniosynostosis syndromes linked to FGFR2 mutations.
Conclusions:
- Radiographic foot anomalies are common in Crouzon syndrome, though often clinically subtle.
- These findings expand the understanding of skeletal dysplasia in Crouzon syndrome.
- Foot anomalies are a shared feature among several complex craniosynostosis syndromes involving FGFR2 mutations.