Ontology highlight
ABSTRACT:
SUBMITTER: Heulens I
PROVIDER: S-EPMC3722676 | biostudies-other | 2013 Aug
REPOSITORIES: biostudies-other
Heulens Inge I Suttie Michael M Postnov Andrei A De Clerck Nora N Perrotta Concetta S CS Mattina Teresa T Faravelli Francesca F Forzano Francesca F Kooy R Frank RF Hammond Peter P
European journal of human genetics : EJHG 20121205 8
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges li ...[more]