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

• Main Authors: Bendon Charlotte L (Author), Fenwick Aimée L (Author), Hurst Jane A (Author), Nürnberg Gudrun (Author), Nürnberg Peter (Author), Wall Steven A (Author), Wilkie Andrew OM (Author), Johnson David (Author)
• Format: Book
• Published: BMC, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>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 <it>SH3PXD2B</it> gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome.</p> <p>Case presentation</p> <p>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 <it>SH3PXD2B</it> gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure.</p> <p>Conclusion</p> <p>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.</p>

Item Description

10.1186/1471-2350-13-104
1471-2350