How to cite this article: Yamamoto T, Sameshima K, Sekido K-i, Aida N, Matsumoto N, Naritomi K, Kurosawa K. 2006. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. Am J Med Genet Part A 140A:1302–1304.
Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome†
Version of Record online: 11 MAY 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 12, pages 1302–1304, 15 June 2006
How to Cite
Yamamoto, T., Sameshima, K., Sekido, K.-i., Aida, N., Matsumoto, N., Naritomi, K. and Kurosawa, K. (2006), Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. Am. J. Med. Genet., 140A: 1302–1304. doi: 10.1002/ajmg.a.31297
- Issue online: 25 MAY 2006
- Version of Record online: 11 MAY 2006
- Manuscript Accepted: 29 MAR 2006
- Manuscript Received: 16 NOV 2005
- Japan Society for the Promotion of Science
- SORST from Japan Science and Technology Agency
- deletion 22q11.2;
- metopic suture;
Deletion 22q11.2 syndrome is a well-known contiguous gene syndrome, for which the list of findings is extensive and varies from patient to patient. We encountered a unique patient who had a familial 3-Mb deletion 22q11.2 associated with trigonocephaly derived from craniosynostosis of the metopic suture. Almost all the symptoms of the patient, including polymicrogyria, microcephaly, facial abnormalities, internal anomalies, seizures, and mental retardation, were compatible with deletion 22q11.2 syndrome, except for synostosis of the metopic suture. This is the first report of a relationship between deletion 22q11.2 syndrome and trigonocephaly. Craniosynostosis of the metopic suture might be a minor complication of deletion 22q11.2, although coincidental occurrence cannot be ruled out. © 2006 Wiley-Liss, Inc.