title: Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.
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.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ. c.longman@yorkhill.scot.nhs.uk
authors.forename: Cheryl
authors.initials: C
authors.lastname: Longman
authors.forename: Margo
authors.initials: M
authors.lastname: Whiteford
authors.forename: David
authors.initials: D
authors.lastname: Koppel
authors.forename: Malcolm
authors.initials: M
authors.lastname: Donaldson
authors.forename: Wendy
authors.initials: W
authors.lastname: Paterson
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology*; D002648:Child; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D035781:Siblings; D014057:Tomography, X-Ray Computed