颅缝早闭：22q11.2缺失综合征的另一特征。
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
作者信息
McDonald-McGinn Donna M, Gripp Karen W, Kirschner Richard E, Maisenbacher Melissa K, Hustead Virginia, Schauer Galen M, Keppler-Noreuil Kim M, Ciprero Karen L, Pasquariello Patrick, LaRossa Don, Bartlett Scott P, Whitaker Linton A, Zackai Elaine H
机构信息
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
出版信息
Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi: 10.1002/ajmg.a.30746.
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.
我们报告了4例22q11.2缺失患者中存在颅缝早闭的情况。鉴于之前有关该关联的报道，我们提出其发生率高于一般人群发病率。因此，我们建议颅缝早闭应被视为22q11.2缺失的一种表现，反之，在颅缝早闭的鉴别诊断中应考虑22q11.2缺失。
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