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

Donna M. McDonald-McGinn; Karen W. Gripp; Richard E. Kirschner; Melissa K. Maisenbacher; Virginia Hustead; Galen M. Schauer; Kim M. Keppler-Noreuil; Karen L. Ciprero; Patrick Pasquariello; Don LaRossa; Scott P. Bartlett; Linton A. Whitaker; Elaine H. Zackai

doi:10.1002/ajmg.a.30746

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

Donna M. McDonald-McGinn
, Karen W. Gripp
, Richard E. Kirschner
, Melissa K. Maisenbacher
, Virginia Hustead
, Galen M. Schauer
, Kim M. Keppler-Noreuil
, Karen L. Ciprero
, Patrick Pasquariello
, Don LaRossa
, Scott P. Bartlett
, Linton A. Whitaker
, Elaine H. Zackai

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

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.

Original language	English
Pages (from-to)	358-362
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	136 A
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.30746
State	Published - Aug 1 2005

Keywords

22q11.2
Chromosome 22
Cranial fusion
Craniosynostosis
Microdeletion
Velocardiofacial syndrome

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10.1002/ajmg.a.30746

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McDonald-McGinn, D. M., Gripp, K. W., Kirschner, R. E., Maisenbacher, M. K., Hustead, V., Schauer, G. M., Keppler-Noreuil, K. M., Ciprero, K. L., Pasquariello, P., LaRossa, D., Bartlett, S. P., Whitaker, L. A., & Zackai, E. H. (2005). Craniosynostosis: Another feature of the 22q11.2 deletion syndrome. American Journal of Medical Genetics, 136 A(4), 358-362. https://doi.org/10.1002/ajmg.a.30746

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title = "Craniosynostosis: Another feature of the 22q11.2 deletion syndrome",

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.",

keywords = "22q11.2, Chromosome 22, Cranial fusion, Craniosynostosis, Microdeletion, Velocardiofacial syndrome",

author = "McDonald-McGinn, \{Donna M.\} and Gripp, \{Karen W.\} and Kirschner, \{Richard E.\} and Maisenbacher, \{Melissa K.\} and Virginia Hustead and Schauer, \{Galen M.\} and Keppler-Noreuil, \{Kim M.\} and Ciprero, \{Karen L.\} and Patrick Pasquariello and Don LaRossa and Bartlett, \{Scott P.\} and Whitaker, \{Linton A.\} and Zackai, \{Elaine H.\}",

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month = aug,

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doi = "10.1002/ajmg.a.30746",

language = "English",

volume = "136 A",

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McDonald-McGinn, DM, Gripp, KW, Kirschner, RE, Maisenbacher, MK, Hustead, V, Schauer, GM, Keppler-Noreuil, KM, Ciprero, KL, Pasquariello, P, LaRossa, D, Bartlett, SP, Whitaker, LA & Zackai, EH 2005, 'Craniosynostosis: Another feature of the 22q11.2 deletion syndrome', American Journal of Medical Genetics, vol. 136 A, no. 4, pp. 358-362. https://doi.org/10.1002/ajmg.a.30746

TY - JOUR

T1 - Craniosynostosis

T2 - Another feature of the 22q11.2 deletion syndrome

AU - McDonald-McGinn, Donna M.

AU - Gripp, Karen W.

AU - Kirschner, Richard E.

AU - Maisenbacher, Melissa K.

AU - Hustead, Virginia

AU - Schauer, Galen M.

AU - Keppler-Noreuil, Kim M.

AU - Ciprero, Karen L.

AU - Pasquariello, Patrick

AU - LaRossa, Don

AU - Bartlett, Scott P.

AU - Whitaker, Linton A.

AU - Zackai, Elaine H.

PY - 2005/8/1

Y1 - 2005/8/1

N2 - 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.

AB - 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.

KW - 22q11.2

KW - Chromosome 22

KW - Cranial fusion

KW - Craniosynostosis

KW - Microdeletion

KW - Velocardiofacial syndrome

UR - https://www.scopus.com/pages/publications/23044496400

U2 - 10.1002/ajmg.a.30746

DO - 10.1002/ajmg.a.30746

M3 - Article

C2 - 16001439

AN - SCOPUS:23044496400

SN - 1552-4825

VL - 136 A

SP - 358

EP - 362

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

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

Abstract

Keywords

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