AUTOSOMAL-DOMINANT HOLOCALVARIAL CRANIOSYNOSTOSIS

Citation
G. Pillar et al., AUTOSOMAL-DOMINANT HOLOCALVARIAL CRANIOSYNOSTOSIS, Child's nervous system, 11(11), 1995, pp. 617-620
Citations number
18
Categorie Soggetti
Neurosciences,Pediatrics
Journal title
ISSN journal
02567040
Volume
11
Issue
11
Year of publication
1995
Pages
617 - 620
Database
ISI
SICI code
0256-7040(1995)11:11<617:AHC>2.0.ZU;2-1
Abstract
Isolated holocalvarial synostosis with normal intelligence is describe d in two pairs of sibs from one kindred. Diagnosis was delayed until t he age of 5 years in the proband. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with auto somal dominant inheritance.