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Article

FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.

Clinical dysmorphology - 1 Oct 2006

Hackett Anna, Rowe Lindsay

Abstract excerpt

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...

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Source

Identifiers

PMID: 16957473
DOI: 10.1097/01.mcd.0000220608.40155.d4

Genes

FGFR1
FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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