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Am J Med Genet A. 2013 Oct;161A(10):2641-4. doi: 10.1002/ajmg.a.36130. Epub 2013 Aug 15.

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

Author information

1
Clinical Genetic Center, Department of Pediatrics, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.

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.

KEYWORDS:

achondroplasia; craniosynostosis; multiple-suture

PMID:
23949953
DOI:
10.1002/ajmg.a.36130
[Indexed for MEDLINE]

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