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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2012

Open Access 01-12-2012 | Case report

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Authors: Charlotte L Bendon, Aimée L Fenwick, Jane A Hurst, Gudrun Nürnberg, Peter Nürnberg, Steven A Wall, Andrew OM Wilkie, David Johnson

Published in: BMC Medical Genetics | Issue 1/2012

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Abstract

Background

Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome.

Case presentation

We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure.

Conclusion

The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.
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Metadata
Title
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Authors
Charlotte L Bendon
Aimée L Fenwick
Jane A Hurst
Gudrun Nürnberg
Peter Nürnberg
Steven A Wall
Andrew OM Wilkie
David Johnson
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-13-104

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