Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
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...
| Main Authors: | , , , , , , , |
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| 格式: | Journal article |
| 語言: | English |
| 出版: |
BioMed Central
2012
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| 主題: |
| _version_ | 1826276008818376704 |
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| author | Bendon, C Fenwick, A Hurst, J Nürnberg, G Nürnberg, P Wall, SA Wilkie, A Johnson, D |
| author_facet | Bendon, C Fenwick, A Hurst, J Nürnberg, G Nürnberg, P Wall, SA Wilkie, A Johnson, D |
| author_sort | Bendon, C |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T23:07:31Z |
| format | Journal article |
| id | oxford-uuid:645a3784-0052-4241-bff7-67d990c994bd |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:07:31Z |
| publishDate | 2012 |
| publisher | BioMed Central |
| record_format | dspace |
| spelling | oxford-uuid:645a3784-0052-4241-bff7-67d990c994bd2022-03-26T18:18:26ZFrank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:645a3784-0052-4241-bff7-67d990c994bdGenetics (medical sciences)EnglishSymplectic Elements at OxfordBioMed Central2012Bendon, CFenwick, AHurst, JNürnberg, GNürnberg, PWall, SAWilkie, AJohnson, D 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. |
| spellingShingle | Genetics (medical sciences) Bendon, C Fenwick, A Hurst, J Nürnberg, G Nürnberg, P Wall, SA Wilkie, A Johnson, D Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title | Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title_full | Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title_fullStr | Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title_full_unstemmed | Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title_short | Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. |
| title_sort | frank ter haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure |
| topic | Genetics (medical sciences) |
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