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Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

Longman, Cheryla; Whiteford, Margoa; Koppel, Davidb; Donaldson, Malcolmc; Paterson, Wendyc; Tolmie, Johna


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.

aDuncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ

bCanniesburn Hospital, Switchback Road, Bearsden, Glasgow, G61 1QL

cDepartment of Child Health, Royal Hospital for Sick Children, Glasgow, G3 8SJ UK

Correspondence and requests for reprints to Cheryl Longman, Medical Genetics Department, Yorkhill Hospitals NHS Trust, Glasgow G3 8SJ, UK

Tel: +44 141 2010365; fax: +44 141 3574277;


Received 17 June 2002 Accepted 14 June 2003

© 2003 Lippincott Williams & Wilkins, Inc.