Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

Abstract

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.

• Authors: Toshiyuki Yamamoto, Kiyoko Sameshima, Ken-ichi Sekido, Noriko Aida, Naomichi Matsumoto, Kenji Naritomi, Kenji Kurosawa
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 12 Pg. 1302-4 (Jun 15 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16691595 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2006 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Brain (abnormalities, diagnostic imaging)
• Child, Preschool
• Chromosome Banding
• Chromosome Deletion
• Chromosomes, Human, Pair 22
• Craniofacial Abnormalities
• Cytogenetic Analysis
• Heredity (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (complications)
• Magnetic Resonance Imaging
• Male
• Tomography, X-Ray Computed