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Article

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

American journal of medical genetics. Part A - 1 Mar 2015

Accogli Andrea, Pacetti Mattia, Fiaschi Pietro, Pavanello Marco, Piatelli Gianluca, Nuzzi Daniele, Baldi Maurizia, Tassano Elisa, Severino Maria Savina, Allegri Anna, Capra Valeria

Abstract excerpt

We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of...

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Share to Achondroplasia
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Craniosynostoses

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Share to Imaging, Three-Dimensional

Share to Magnetic Resonance Imaging

Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

Identifiers

PMID: 25691418
DOI: 10.1002/ajmg.a.36933

Genes

FGFR3
FGFR1
FGFR2
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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