Bendon, Charlotte L., Fenwick, Aimee L., Hurst, Jane A., Nuernberg, Gudrun, Nuernberg, Peter, Wall, Steven A., Wilkie, Andrew O. M. and Johnson, David (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med. Genet., 13. LONDON: BMC. ISSN 1471-2350

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Bendon, Charlotte L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fenwick, Aimee L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hurst, Jane A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wall, Steven A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wilkie, Andrew O. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Johnson, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-479034
DOI: 10.1186/1471-2350-13-104
Journal or Publication Title: BMC Med. Genet.
Volume: 13
Date: 2012
Publisher: BMC
Place of Publication: LONDON
ISSN: 1471-2350
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
MELNICK-NEEDLES SYNDROME; DELINEATION; PATIENT; BONEMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47903

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