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FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report
1Hunter Genetics Department of Radiology, John Hunter Hospital, Newcastle, New South Wales, Australia.
Clinical Dysmorphology
|September 8, 2006
Summary
Pfeiffer syndrome, caused by FGFR1 mutations, can present with hand and foot abnormalities but no craniosynostosis. Genetic testing for fibroblast growth factor receptor 1 (FGFR1) mutations is crucial even without craniofacial features.
Area of Science:
- Genetics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Pfeiffer syndrome is an autosomal dominant disorder characterized by craniosynostosis and digital abnormalities.
- Mutations in fibroblast growth factor receptor genes (FGFR1 and FGFR2) are associated with Pfeiffer syndrome.
- FGFR1 mutations typically lead to milder craniofacial and hand anomalies compared to FGFR2.
Observation:
- A four-generation family with a specific FGFR1 P252R mutation was studied.
- Affected individuals exhibited characteristic digital and foot skeletal features of Pfeiffer syndrome.
- Crucially, no family members displayed any craniofacial involvement, including craniosynostosis.
Findings:
- This family represents the third reported instance of Pfeiffer syndrome linked to an FGFR1 mutation without craniofacial manifestations.
- The P252R mutation in FGFR1 is associated with a phenotype predominantly affecting limb development.
Implications:
- The absence of craniosynostosis should not deter genetic analysis for FGFR mutations when digital abnormalities suggestive of craniosynostosis syndromes are present.
- This highlights the phenotypic variability of FGFR1 mutations in Pfeiffer syndrome.
- Broadens diagnostic considerations for skeletal dysplasias with digital anomalies.
