Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
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.
McDonald-McGinn
Donna M
DM
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. mcginn@email.chop.edu
Gripp
Karen W
KW
Kirschner
Richard E
RE
Maisenbacher
Melissa K
MK
Hustead
Virginia
V
Schauer
Galen M
GM
Keppler-Noreuil
Kim M
KM
Ciprero
Karen L
KL
Pasquariello
Patrick
P
LaRossa
Don
D
Bartlett
Scott P
SP
Whitaker
Linton A
LA
Zackai
Elaine H
EH
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome