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Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome
Author(s) -
Yamamoto Toshiyuki,
Sameshima Kiyoko,
Sekido Kenichi,
Aida Noriko,
Matsumoto Naomichi,
Naritomi Kenji,
Kurosawa Kenji
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31297
Subject(s) - trigonocephaly , craniosynostosis , microcephaly , dysostosis , medicine , deletion syndrome , craniosynostoses , synostosis , pediatrics , biology , surgery , genetics , gene , congenital disease , phenotype
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.