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

Abstract

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.

• Authors: Charlotte L Bendon, Aimée L Fenwick, Jane A Hurst, Gudrun Nürnberg, Peter Nürnberg, Steven A Wall, Andrew O M Wilkie, David Johnson
• Journal: BMC medical genetics (BMC Med Genet) Vol. 13 Pg. 104 (Nov 09 2012) ISSN: 1471-2350 [Electronic] England
• PMID: 23140272 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Adaptor Proteins, Signal Transducing
• SH3PXD2B protein, human

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Craniofacial Abnormalities (diagnosis, etiology, genetics)
• Craniosynostoses (diagnosis, etiology, genetics)
• Developmental Disabilities (diagnosis, etiology, genetics)
• Female
• Heart Defects, Congenital (diagnosis, etiology, genetics)
• Humans
• Intracranial Pressure
• Male
• Mutation
• Osteochondrodysplasias (congenital, diagnosis, etiology, genetics)
• Pedigree