%0 Journal Article
%T Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
%A Bendon Charlotte L
%A Fenwick Aim¨¦e L
%A Hurst Jane A
%A N¨¹rnberg Gudrun
%J BMC Medical Genetics
%D 2012
%I BioMed Central
%R 10.1186/1471-2350-13-104
%X 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.
%K Frank-ter Haar syndrome
%K Craniosynostosis
%K Sagittal synostosis
%K Intracranial pressure
%U http://www.biomedcentral.com/1471-2350/13/104