Universität zu Köln

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

Full text not available from this repository.

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:	Creators Email ORCID ORCID Put Code Bendon, Charlotte L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fenwick, Aimee L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hurst, Jane A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Wall, Steven A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wilkie, Andrew O. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Johnson, David UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language MELNICK-NEEDLES SYNDROME; DELINEATION; PATIENT; BONE Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47903