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

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 carrie...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-10, Vol.161A (10), p.2641-2644
Main Authors: Bessenyei, Beáta, Nagy, Andrea, Balogh, Erzsébet, Novák, László, Bognár, László, Knegt, Alida C., Oláh, Éva
Format: Article
Language:English
Subjects:
achondroplasia
Achondroplasia - complications
Achondroplasia - diagnosis
Achondroplasia - genetics
Bone and Bones - diagnostic imaging
Bone and Bones - pathology
Chromosome Banding
Craniosynostoses - complications
Craniosynostoses - diagnosis
Craniosynostoses - genetics
craniosynostosis
Exons
Female
Humans
Imaging, Three-Dimensional
Infant, Newborn
multiple-suture
Mutation
Phenotype
Radiography
Receptor, Fibroblast Growth Factor, Type 3 - genetics
Skull - pathology
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36130