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Article

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Medicina oral, patologia oral y cirugia bucal - 1 Jan 2015

Júnior Hercílio-Martelli, de Aquino Sibele-Nascimento, Machado Renato-Assis, Leão Letícia-Lima, Coletta Ricardo-Della, Burle-Aguiar Marcos-José

Abstract excerpt

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical...

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Source

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Identifiers

PMID: 25129254
DOI: 10.4317/medoral.20032
PMCID: PMC4320421

Genes

FGFR1
FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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