Craniofacial morphology in Muenke syndrome.

Abstract

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
• Journal: The Journal of craniofacial surgery (J Craniofac Surg) Vol. 18 Issue 2 Pg. 374-86 (Mar 2007) ISSN: 1049-2275 [Print] United States
• PMID: 17414289 (Publication Type: Journal Article)

Chemical References

• Arginine
• Proline
• Receptor, Fibroblast Growth Factor, Type 3

Topics

• Amino Acid Substitution
• Arginine
• Chi-Square Distribution
• Cranial Sutures (diagnostic imaging, pathology)
• Craniosynostoses (diagnostic imaging, genetics, pathology)
• Facial Asymmetry (diagnostic imaging, pathology)
• 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