| Craniofacial characteristics of fragile X syndrome in mouse and man. | |
| | |
MedLine Citation:
|
PMID: 23211703 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.European Journal of Human Genetics advance online publication, 5 December 2012; doi:10.1038/ejhg.2012.265. |
| | |
Authors:
|
Inge Heulens; Michael Suttie; Andrei Postnov; Nora De Clerck; Concetta S Perrotta; Teresa Mattina; Francesca Faravelli; Francesca Forzano; R Frank Kooy; Peter Hammond |
Related Documents
:
|
21959463 - Transient cardiac failure due to takotsubo cardiomyopathy after surgical reduction of n... 6373703 - Toxic factors in tall fescue. 17237583 - Churg strauss syndrome after introducing oral steroid to inhaler: a report of three cases. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-12-05 |
Journal Detail:
|
Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2012 Dec |
Date Detail:
|
Created Date: 2012-12-5 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Two novel mutations of the GTP cyclohydrolase I gene and genotype-phenotype correlation in Chinese D...
Next Document: Pathways to abnormal revenge and forgiveness.