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Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association
Author(s) -
Bessenyei Beáta,
Nagy Andrea,
Balogh Erzsébet,
Novák László,
Bognár László,
Knegt Alida C.,
Oláh Éva
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36130
Subject(s) - achondroplasia , craniosynostosis , plagiocephaly , synostosis , crouzon syndrome , coronal suture , craniosynostoses , fibroblast growth factor receptor 3 , anatomy , biology , medicine , genetics , fibroblast growth factor , receptor
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. © 2013 Wiley Periodicals, Inc.