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

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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 p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation.

Original languageEnglish
Pages (from-to)2641-2644
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number10
DOIs
Publication statusPublished - Oct 1 2013

Keywords

  • Achondroplasia
  • Craniosynostosis
  • Multiple-suture

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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