Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.
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.
Longman
Cheryl
C
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ. c.longman@yorkhill.scot.nhs.uk
Whiteford
Margo
M
Koppel
David
D
Donaldson
Malcolm
M
Paterson
Wendy
W
Tolmie
John
J
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