FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report

Pfeiffer syndrome is an autosomal dominant condition classically encompassing both craniosynostosis and digital abnormalities of the hands and feet. Individuals with Pfeiffer syndrome may have mutations within either fibroblast growth factor receptor 1 gene (FGFR1) or FGFR2. FGFR1 mutations often result in less severe craniofacial involvement and hand abnormalities. We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement. This is the third family in the literature in which no family members have craniofacial features of Pfeiffer syndrome. The absence of craniosynostosis should not preclude the consideration of FGFR mutation analysis in cases in which digital features are characteristic of the craniosynostosis syndromes.