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Open Access Case report

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

Charlotte L Bendon1, Aimée L Fenwick2, Jane A Hurst37, Gudrun Nürnberg4, Peter Nürnberg456, Steven A Wall1, Andrew OM Wilkie123 and David Johnson1*

Author Affiliations

1 Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK

2 Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK

3 Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK

4 Cologne Center for Genomics, University of Cologne, Cologne, Germany

5 Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

6 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

7 Current address: Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, WC1N 3BH, UK

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BMC Medical Genetics 2012, 13:104  doi:10.1186/1471-2350-13-104

Published: 9 November 2012

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.

Keywords:
Frank-ter Haar syndrome; Craniosynostosis; Sagittal synostosis; Intracranial pressure