| An 8.9 year old girl with autism and Gorlin syndrome. | |
| | |
MedLine Citation:
|
PMID: 21190878 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed. |
| | |
Authors:
|
Hanne Delbroek; Jean Steyaert; Eric Legius |
Related Documents
:
|
8940958 - Recognizing uncommon headache syndromes. 19330208 - Characterization of headaches in the premenstrual tension syndrome. 18263918 - Clinical aspects of systemic granulomatous inflammatory syndrome in ferrets (mustela pu... 14671828 - Biological, chemical and radiological terrorism. 3416888 - Psychoorganic syndrome from exposure to fluorocarbon 113--an occupational disease? 19263078 - Double aortic arch with double aneuploidy--rare anomaly in combined down and klinefelte... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2010-12-27 |
Journal Detail:
|
Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: - ISSN: 1532-2130 ISO Abbreviation: - Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-12-30 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
|
Department of Child and Adolescent Psychiatry, Catholic University of Leuven, Leuven, Belgium. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Management of Sexual Assault-related Large Rectovaginal Fistula in an Eight-Year-Old.
Next Document: Epidemiology and correlation of the clinicopathological features in oral epithelial dysplasia: analy...