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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 linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.

Original publication




Journal article


Eur J Hum Genet

Publication Date





816 - 823


Adolescent, Adult, Animals, Child, Child, Preschool, Craniofacial Abnormalities, Disease Models, Animal, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome, Humans, Male, Mandible, Mice, Mice, Inbred C57BL, Mice, Knockout, Middle Aged, Models, Anatomic, Mutation, Skull, X-Ray Microtomography, Young Adult