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Updated: Aug 30, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Craniosynostosis associated with intracranial calcification: a novel recessive syndrome
Cheryl Longman1, Margo Whiteford, David Koppel
1Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ. c.longman@yorkhill.scot.nhs.uk
Insights
This study identifies a new craniosynostosis syndrome in siblings with basal ganglia calcification and distinct facial features. The condition appears to be inherited in an autosomal recessive pattern.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Craniosynostosis is a birth defect involving the premature fusion of skull sutures.
- Genetic syndromes can cause craniosynostosis, often with associated neurological and developmental features.
Observation:
- Three siblings presented with variable craniosynostosis, basal ganglia calcification, and mild facial dysmorphism.
- Affected children had prominent eyes and a prominent nasal bridge, but normal intelligence and no limb abnormalities.
Findings:
- The siblings' parents were first cousins and phenotypically normal, suggesting recessive inheritance.
- The specific constellation of craniosynostosis, basal ganglia calcification, and facial dysmorphism suggests a novel genetic syndrome.
Implications:
- This report describes a potentially recognizable autosomal recessive craniosynostosis syndrome.
- Further research is needed to identify the causative gene and understand the syndrome's pathogenesis.
Abstract:
We report three siblings who were variably affected by craniosynostosis, calcification of the basal ganglia, and mild facial dysmorphism comprising prominent eyes and a prominent nasal bridge. The children are of normal intelligence and have no limb abnormalities. Their parents are first cousins and are phenotypically normal. We propose that this combination of clinical findings represents a recognizable, autosomal recessive craniosynostosis syndrome.
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