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Craniofacial dyssynostosis: a further case report
1Clinical Genetics Unit, Birmingham Women's Hospital, United Kingdom.
Insights
Craniofacial dyssynostosis, a rare autosomal recessive disorder, is detailed in a boy with developmental delay and epilepsy. This case highlights a neuronal migration defect, a novel finding in this condition.
Area of Science:
- Genetics
- Developmental Biology
- Neurology
Background:
- Craniofacial dyssynostosis is a rare autosomal recessive disorder.
- First described in 1976, it was predicted to be common in individuals of Spanish descent.
- No cases have been reported since its initial description.
Observation:
- A boy presented with lambdoid craniosynostosis, severe global developmental delay, epilepsy, and oculomotor dyspraxia.
- He also exhibited a very thin corpus callosum and minor anomalies.
- The clinical presentation aligns with craniofacial dyssynostosis.
Findings:
- This case shares similarities with previously reported instances of craniofacial dyssynostosis.
- A significant additional finding in this patient is a neuronal migration defect.
- The presence of a neuronal migration defect suggests a potential expansion of the known phenotype.
Implications:
- This report reintroduces craniofacial dyssynostosis into the medical literature.
- The identification of a neuronal migration defect may refine diagnostic criteria and understanding of the condition.
- Further research is warranted to explore the genetic basis and prevalence of craniofacial dyssynostosis, particularly in Spanish populations.
Abstract:
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive condition was first described in 1976 and was originally predicted to be relatively common in those of Spanish descent. However, there have been no further reports of the condition. This case is remarkably similar to those previously described, but has the additional finding of a neuronal migration defect.
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