A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders. S Kung, M Walters, P Claes, J Goldblatt, P Le Souef, G Baynam.
Date: June 2012 (Epub). Source: JIMD Reports; Volume 8, pp 31-39. Background: Some lysosomal storage disorders (LSDs), including Muccopolysaccharidosis type 1 (MPSI), are associated with characteristic facies. Methods such as three-dimensional (3D) facial scanning and geometric morphometric techniques can potentially generate detailed objective descriptions of these facial phenotypes. This approach can facilitate discriminating the inherent…