An 8.9 year old girl with autism and Gorlin syndrome

Hanne Delbroek, Jean Steyaert, Eric Legius*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)268-270
JournalEuropean Journal of Paediatric Neurology
Issue number3
Publication statusPublished - May 2011


  • Gorlin syndrome
  • Nevoid basal cell carcinoma syndrome
  • PTCH1 gene
  • Autism

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