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Twin Res Hum Genet. 2013 Aug;16(4):840-4. doi: 10.1017/thg.2013.49.

Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.

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  • 1School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia.


With advances in therapeutics for rare, genetic and syndromic diseases, there is an increasing need for objective assessments of phenotypic endpoints. These assessments will preferentially be high precision, non-invasive, non-irradiating, and relatively inexpensive and portable. We report a case of a child with an extensive lymphatic vascular malformation of the head and neck, treated with an mammalian target of Rapamycin (mTOR) inhibitor that was assessed using 3D facial analysis. This case illustrates that this technology is prospectively a cost-effective modality for treatment monitoring, and it supports that it may also be used for novel explorations of disease biology for conditions associated with disturbances in the mTOR, and interrelated, pathways.

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