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Article

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

American journal of medical genetics. Part A - 1 Oct 2013

Bessenyei Beáta, Nagy Andrea, Balogh Erzsébet, Novák László, Bognár László, Knegt Alida C, Oláh Eva

Abstract excerpt

We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a...

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 23949953
DOI: 10.1002/ajmg.a.36130

Genes

FGFR1
FGFR3
TWIST1

Variants

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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