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

BMC Medical Genetics

David Johnson⁶  Andrew OM Wilkie³  Steven A Wall⁶  Peter Nürnberg⁵  Gudrun Nürnberg¹  Jane A Hurst²  Aimée L Fenwick⁴  Charlotte L Bendon⁶ 

[1] Cologne Center for Genomics, University of Cologne, Cologne, Germany;Current address: Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, WC1N 3BH, UK;Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK;Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK;Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany;Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK

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

Others  :  1177777
DOI  :  10.1186/1471-2350-13-104

 received in 2012-05-19, accepted in 2012-10-29,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Bendon et al.; licensee BioMed Central Ltd.

【 图 表 】

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