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Craniofacial disproportions in Apert's syndrome: an anthropometric study
Insights
Apert syndrome craniofacial indices show frequent disproportions, particularly wide intercanthal distance and narrow nose. Some facial index abnormalities increase with age, while others decrease, indicating complex developmental changes.
Area of Science:
- Craniofacial development
- Genetics and developmental biology
- Pediatric surgery
Background:
- Apert syndrome is a genetic disorder characterized by premature fusion of skull sutures and distinctive facial features.
- Understanding craniofacial morphology in Apert syndrome is crucial for surgical planning and management.
- Previous studies have described various craniofacial abnormalities, but age-related changes in specific indices require further investigation.
Purpose of the Study:
- To quantitatively assess craniofacial indices in Apert syndrome patients.
- To compare these indices with healthy controls across different age groups.
- To identify age-related trends in craniofacial disproportions in Apert syndrome.
Main Methods:
- Twenty craniofacial indices derived from 26 surface measurements were analyzed.
- Apert syndrome patients were divided into two age subgroups: 18 days to 5 years and 6 to 15 years.
- Measurements were compared between patient groups and age-matched healthy controls.
Main Results:
- The most frequent disproportion was wide intercanthal distance relative to a narrow nose (81.5%).
- Seven of 16 disproportions increased with age, though often nonsignificantly.
- Four disproportions significantly decreased with age, including frontoparietal and frontozygomatic indices.
Conclusions:
- Apert syndrome presents with significant craniofacial disproportions, notably affecting the intercanthal and nasal regions.
- Age-related changes in craniofacial indices suggest complex developmental patterns in Apert syndrome.
- Findings provide valuable data for understanding the progression of craniofacial abnormalities in Apert syndrome.
Abstract:
Twenty craniofacial indices composed of 26 surface measurements taken directly from the head and face were determined in 14 Apert's syndrome patients 18 days to 5 years old (younger subgroup) and 14 patients ages 6 years to 15 years old (older subgroup). All of the patients were North American Caucasians who had undergone early suture release but no facial repair. The indices were compared with those in healthy controls of the same age and sex. The wide intercanthal distance in relation to the narrow soft nose was the most frequent (81.5%) and extensive (17.7% above the maximum normal index value) disproportion. Abnormal indices occurred most often with the combination of one abnormal and one normal measurement (61.0%). All seven of the 16 disproportions seen in both age subgroups increased in frequency nonsignificantly with age: the supernormal cephalic, intercanthal, nasal, and vertical mandibulofacial indices and the subnormal nasofacial, upper face, and jaws' arcs indices. Of the six disproportions that decreased in frequency with age, four changed significantly (the supernormal frontoparietal and frontozygomatic indices and the subnormal mandibulofacial and nasozygomatic indices) and two changed nonsignificantly (the supernormal intercanthoalar and subnormal cheilozygomatic indices). With the exception of two nasal proportions, the extent of the disproportionality decreased in all of the indices that increased with age.