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Craniofacial morphology in Turner syndrome.
Journal of Craniofacial Genetics and Developmental Biology
|January 1, 1985
Summary
Adults with Turner syndrome exhibit distinct craniofacial differences, including smaller facial structures and altered jaw positioning compared to women without the condition. These craniofacial characteristics were consistent across different Turner syndrome karyotypes.
Area of Science:
- Craniofacial morphology
- Genetics
- Endocrinology
Background:
- Turner syndrome is a genetic condition affecting females, characterized by the absence of one X chromosome.
- Previous studies suggest craniofacial abnormalities in Turner syndrome, but detailed comparisons across karyotypes are limited.
Purpose of the Study:
- To analyze and compare the craniofacial morphology of adults with Turner syndrome.
- To investigate differences between patients with 45,X karyotypes and those with other X-chromosome aberrations.
Main Methods:
- Cephalometric analysis of craniofacial structures in 41 adult Turner syndrome patients.
- Comparison with a control group of 51 healthy adult women.
- Analysis of different X-chromosome karyotypes within the Turner syndrome cohort.
Main Results:
- Turner syndrome patients displayed significantly smaller calvarium, maxilla, and mandible compared to controls.
- A shorter, flattened cranial base and retrognathic, posteriorly inclined maxilla and mandible were observed.
- Increased sagittal jaw relationship and overjet were noted in Turner syndrome patients.
- Craniofacial morphology showed no significant differences between 45,X and other X-chromosome aberration groups.
Conclusions:
- Turner syndrome is associated with distinct craniofacial morphology, including reduced size and specific jaw positioning.
- The observed retrognathism and posterior inclination of the maxilla and mandible may be linked to cranial base alterations.
- Karyotype variations in Turner syndrome did not significantly impact craniofacial morphology in this study.