An 8.9 year old girl with autism and Gorlin syndrome

Hanne Delbroek; Jean Steyaert; Eric Legius

doi:10.1016/j.ejpn.2010.12.001

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 journal › Article › Academic › peer-review

Abstract

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 language	English
Pages (from-to)	268-270
Journal	European Journal of Paediatric Neurology
Volume	15
Issue number	3
DOIs	https://doi.org/10.1016/j.ejpn.2010.12.001
Publication status	Published - May 2011

Keywords

Gorlin syndrome
Nevoid basal cell carcinoma syndrome
PTCH1 gene
Autism

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10.1016/j.ejpn.2010.12.001

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title = "An 8.9 year old girl with autism and Gorlin syndrome",

abstract = "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. ",

keywords = "Gorlin syndrome, Nevoid basal cell carcinoma syndrome, PTCH1 gene, Autism",

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AU - Steyaert, Jean

AU - Legius, Eric

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AB - 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.

KW - Gorlin syndrome

KW - Nevoid basal cell carcinoma syndrome

KW - PTCH1 gene

KW - Autism

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DO - 10.1016/j.ejpn.2010.12.001

M3 - Article

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SN - 1090-3798

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EP - 270

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

IS - 3

ER -

An 8.9 year old girl with autism and Gorlin syndrome

Abstract

Keywords

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