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Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome Volume 20, numéro 1, February 2018

TEST YOURSELF

(1) What are the causes of Bannayan-Riley-Ruvaclaba syndrome?

 

(2) What are the screening recommendations for child patients with PTEN mutations?

 

(3) Which syndromes are associated with hemimegalencephaly?

 

 

 

 

 

 

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Answers

(1) Overall, 60% are due to mutations in the PTEN gene and 10% to deletions involving part or all of the gene, and 30% are idiopathic.


(2) Children (.

 

(3) Proteus syndrome, Proteus-like syndrome, epidermal nevus syndrome, Klippel-Trenaunay-Weber syndrome, Hypomelanosis of Ito, neurofibromatosis, tuberous sclerosis, Aicardi syndrome, Beckwith-Wiedemann syndrome, Hirschprung disease, and also, based on our report, Bannayan-Riley-Ruvalcaba.

 

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