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Article

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

Birth defects research. Part A, Clinical and molecular teratology - 1 Aug 2006

Oliveira Nélio A J, Alonso Luís G, Fanganiello Roberto D, Passos-Bueno Maria Rita

Abstract excerpt

BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16955501
DOI: 10.1002/bdra.20287

Genes

FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.PMID 16955501Read ↗

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