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Updated: May 26, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Imaging features and progression of hyperostosis cranialis interna
J J Waterval1, T M van Dongen, R J Stokroos
1Department of Otorhinolaryngology-Head & Neck Surgery, Maastricht University, Maastricht, The Netherlands. J.Waterval@gmail.com
Sclerosing bone dysplasia, Hyperostotic Cranial Incisura (HCI), causes skull thickening and reduced bone density. These radiologic findings in the craniofacial area explain nerve deficits in affected individuals.
Area of Science:
- Genetics
- Radiology
- Orthopedics
Background:
- Hereditary Cranial Incisura (HCI) is a rare autosomal-dominant bone dysplasia.
- It primarily affects the skull base and calvaria, leading to cranial nerve deficits.
- Mandibular involvement is typically less severe.
Purpose of the Study:
- To detail the specific radiologic characteristics of HCI.
- To describe the natural course of this unique bone dysplasia.
Main Methods:
- Comparative analysis of CT scans from an affected family and controls.
- Quantitative measurements of skull thickness (inner, medulla, outer tables).
- Assessment of bone attenuation and neuroforamina width.
Main Results:
- Significant skull thickening observed in frontal, parietal, temporal, and occipital regions.
- Thickening predominantly involved the inner table of the skull.
- Hyperostotic bone exhibited lower attenuation (density) than normal cortical bone.
Conclusions:
- HCI is the sole known genetic bone dysplasia limited to the craniofacial region.
- Lower bone attenuation in HCI is a key radiologic feature.
- Radiologic findings correlate with potential impairment of olfactory, optic, trigeminal, facial, and vestibulocochlear nerves.
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