BMJ Case Reports 2011; doi:10.1136/bcr.07.2011.4445
  • Unusual association of diseases/symptoms

A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

  1. Jack Goldblatt1,2
  1. 1School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
  2. 2Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
  1. Correspondence to Dr Gareth Baynam, gareth.baynam{at}


In accordance with interrelationships between tumour predisposition and somatic overgrowth, the authors present a boy with a familial serine threonine kinase 11 (STK11) mutation and Sotos syndrome-like features. The authors suggest that, analogous to phosphatase and tensin homolog mutations, STK11 mutations may predispose to somatic overgrowth. In a minority of instances, this may result in a Sotos syndrome phenocopy. If substantiated, this observation may yield insights into both the molecular causes of tumour predisposition and overgrowth syndromes.


  • Competing interests None.

  • Patient consent Obtained.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article