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Am J Med Genet A. 2005 Aug 1;136A(4):358-62.

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

Author information

1
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. mcginn@email.chop.edu

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.

PMID:
16001439
DOI:
10.1002/ajmg.a.30746
[Indexed for MEDLINE]

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