In:
Twin Research and Human Genetics, Cambridge University Press (CUP), Vol. 16, No. 4 ( 2013-08), p. 840-844
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1832-4274
,
1839-2628
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2013
detail.hit.zdb_id:
2184274-7
SSG:
12
