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Autosomal dominant holocalvarial craniosynostosis

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Abstract

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 proband. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.

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Pillar, G., Zaaroor, M. & Gershoni-Baruch, R. Autosomal dominant holocalvarial craniosynostosis. Child's Nerv Syst 11, 617–620 (1995). https://doi.org/10.1007/BF00300715

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  • DOI: https://doi.org/10.1007/BF00300715

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