Article
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
BMC medical genetics - 9 Nov 2012
Bendon Charlotte L, Fenwick Aimée L, Hurst Jane A, Nürnberg Gudrun, Nürnberg Peter, Wall Steven A, Wilkie Andrew O M, Johnson David
Abstract excerpt
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...
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