TY - JOUR
T1 - Three-dimensional face shape in Fabry disease
AU - Cox-Brinkman, Josanne
AU - Vedder, Anouk
AU - Hollak, Carla
AU - Richfield, Linda
AU - Mehta, Atul
AU - Orteu, Kate
AU - Wijburg, Frits
AU - Hammond, Peter
PY - 2007
Y1 - 2007
N2 - Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a cohort of both male and female Fabry patients. Morphometric analysis of different regions of the face revealed significant differences in face shape in male patients and to a lesser extent in female patients. In male patients, the most prominent abnormalities were located in the peri-orbital region. Pattern recognition techniques achieved a discrimination accuracy of up to 85% for male patients compared with healthy controls. The discrimination accuracy in female patients achieved only 67%. This objective method for facial dysmorphology assessment provided evidence for significant differences in face shape in both male and female Fabry patients compared with controls. However, because discrimination from healthy controls is too low, no key role in the diagnostic process can be expected
AB - Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a cohort of both male and female Fabry patients. Morphometric analysis of different regions of the face revealed significant differences in face shape in male patients and to a lesser extent in female patients. In male patients, the most prominent abnormalities were located in the peri-orbital region. Pattern recognition techniques achieved a discrimination accuracy of up to 85% for male patients compared with healthy controls. The discrimination accuracy in female patients achieved only 67%. This objective method for facial dysmorphology assessment provided evidence for significant differences in face shape in both male and female Fabry patients compared with controls. However, because discrimination from healthy controls is too low, no key role in the diagnostic process can be expected
U2 - https://doi.org/10.1038/sj.ejhg.5201798
DO - https://doi.org/10.1038/sj.ejhg.5201798
M3 - Article
C2 - 17327876
SN - 1018-4813
VL - 15
SP - 535
EP - 542
JO - European journal of human genetics
JF - European journal of human genetics
IS - 5
ER -