Document Detail


Craniofacial morphology in Muenke syndrome.
MedLine Citation:
PMID:  17414289     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The purpose of this study was to test whether the severity of the cranial phenotype in Muenke syndrome infants with unicoronal synostosis is greater than in infants with nonsyndromic unicoronal synostosis. A total of 23 infants were included in the study. All infants included in the study had a computed tomography (CT)-verified synostosis of the coronal suture. The patients were either placed into the "Muenke" group (n=11) or the "non-Muenke" control group (n=12) on the basis of a test for the P250R mutation in the FGFR3 gene. On the basis of CT scans, a three-dimensional surface model corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface of the calvaria, cranial base, and maxillary complex. Increased digital markings were more severe posteriorly in Muenke patients than in non-Muenke patients. The Muenke patients with unilateral coronal synostosis showed a somewhat more severe asymmetry in the anterior part of the skull than the non-Muenke patients. The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis.
Authors:
Mette K Keller; Nuno V Hermann; Tron A Darvann; Per Larsen; Hanne D Hove; Leif Christensen; Marianne Schwartz; Jeffrey L Marsh; Sven Kreiborg
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  18     ISSN:  1049-2275     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-04-06     Completed Date:  2007-05-29     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  374-86     Citation Subset:  D    
Affiliation:
Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, 3D Laboratory, Faculty of Health Sciences, University of Copenhagen, and the Department of Clinical Genetics, The Juliane Marie Centre, Copenhagen University Hospital, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Substitution
Arginine
Chi-Square Distribution
Cranial Sutures / pathology*,  radiography
Craniosynostoses / genetics,  pathology*,  radiography
Facial Asymmetry / pathology*,  radiography
Female
Humans
Imaging, Three-Dimensional
Infant
Male
Mutation, Missense
Proline
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Severity of Illness Index
Sex Ratio
Statistics, Nonparametric
Syndrome
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
147-85-3/Proline; 74-79-3/Arginine; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3

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


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