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

BMC Medical Genetics

Case Report

Gudrun Nürnberg¹  Peter Nürnberg²  Jane A Hurst³  David Johnson⁴  Steven A Wall⁴  Charlotte L Bendon⁴  Andrew OM Wilkie⁵  Aimée L Fenwick⁶ 

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

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

DOI  :  10.1186/1471-2350-13-104

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

来源: Springer

【 摘 要 】

BackgroundFrank-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 presentationWe 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.ConclusionThe 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】

Unknown   
© Bendon et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.