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Clin Dysmorphol. 2003 Oct;12(4):215-20.

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

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1
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ. c.longman@yorkhill.scot.nhs.uk

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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