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Craniosynostosis: Another feature of the 22q11.2 deletion syndrome
Author(s) -
McDonaldMcGinn Donna M.,
Gripp Karen W.,
Kirschner Richard E.,
Maisenbacher Melissa K.,
Hustead Virginia,
Schauer Galen M.,
KepplerNoreuil Kim M.,
Ciprero Karen L.,
Pasquariello Patrick,
LaRossa Don,
Bartlett Scott P.,
Whitaker Linton A.,
Zackai Elaine H.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30746
Subject(s) - craniosynostosis , feature (linguistics) , incidence (geometry) , population , genetics , medicine , biology , mathematics , linguistics , philosophy , geometry , environmental health
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. © 2005 Wiley‐Liss, Inc.