Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 15, Issue 3, Pages 268-270Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2010.12.001
Keywords
Gorlin syndrome; Nevoid basal cell carcinoma syndrome; PTCH1 gene; Autism
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Funding
- Fonds voor Wetenschappelijk Onderzoek Vlaanderen
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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. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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