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.
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. mcginn@email.chop.edu
Donna M
DM
McDonald-McGinn
Karen W
KW
Gripp
Richard E
RE
Kirschner
Melissa K
MK
Maisenbacher
Virginia
V
Hustead
Galen M
GM
Schauer
Kim M
KM
Keppler-Noreuil
Karen L
KL
Ciprero
Patrick
P
Pasquariello
Don
D
LaRossa
Scott P
SP
Bartlett
Linton A
LA
Whitaker
Elaine H
EH
Zackai
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