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  • Title: Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
    Author: McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH.
    Journal: Am J Med Genet A; 2005 Aug 01; 136A(4):358-62. PubMed ID: 16001439.
    Abstract:
    We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis.
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