Document Detail

Craniofacial characteristics of fragile X syndrome in mouse and man.
MedLine Citation:
PMID:  23211703     Owner:  NLM     Status:  MEDLINE    
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.
Inge Heulens; Michael Suttie; Andrei Postnov; Nora De Clerck; Concetta S Perrotta; Teresa Mattina; Francesca Faravelli; Francesca Forzano; R Frank Kooy; Peter Hammond
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-12-05
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-18     Completed Date:  2013-10-29     Revised Date:  2014-08-05    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  816-23     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
Craniofacial Abnormalities / genetics*
Disease Models, Animal
Fragile X Mental Retardation Protein / genetics*
Fragile X Syndrome / genetics*,  pathology
Mandible / abnormalities,  metabolism
Mice, Inbred C57BL
Mice, Knockout
Middle Aged
Models, Anatomic
Skull / abnormalities,  metabolism
X-Ray Microtomography
Young Adult
Reg. No./Substance:
0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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