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52054 Craniosynostosis-intracranial calcifications syndrome

definition

Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis (see this term), characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.