Article
Craniofacial characteristics of fragile X syndrome in mouse and man.
European journal of human genetics : EJHG - 1 Aug 2013
Heulens Inge, Suttie Michael, Postnov Andrei, De Clerck Nora, Perrotta Concetta S, Mattina Teresa, Faravelli Francesca, Forzano Francesca, Kooy R Frank, Hammond Peter
Abstract excerpt
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...
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