Autosomal dominant holocalvarial craniosynostosis.
Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
Pillar
G
G
Department of Human Genetics, Rambam Medical Center, Haifa, Israel.
Zaaroor
M
M
Gershoni-Baruch
R
R
D017668:Age of Onset; D002648:Child; D003398:Craniosynostoses / Q000235:genetics* / Q000601:surgery; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D010375:Pedigree