Document Detail


Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.
MedLine Citation:
PMID:  16691595     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-31     Completed Date:  2006-08-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1302-4     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Affiliation:
Department of Medical Genetics, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan. tyamamoto-jes@umin.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Brain / abnormalities,  radiography
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Craniofacial Abnormalities*
Cytogenetic Analysis
Heredity / genetics*
Humans
In Situ Hybridization, Fluorescence
Magnetic Resonance Imaging
Male
Mental Retardation / complications
Tomography, X-Ray Computed

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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