Craniofacial characteristics of fragile X syndrome in mouse and man

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 fema...

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Veröffentlicht in:	European journal of human genetics : EJHG 2013-08, Vol.21 (8), p.816-823
Hauptverfasser:	Heulens, Inge, Suttie, Michael, Postnov, Andrei, De Clerck, Nora, Perrotta, Concetta S, Mattina, Teresa, Faravelli, Francesca, Forzano, Francesca, Kooy, R Frank, Hammond, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Anatomy Animal models Animals Cartilage Child Child, Preschool Childrens health Cognitive ability Computed tomography Craniofacial Abnormalities - genetics Disease Models, Animal Ear Face Female Females FMR1 protein Fragile X mental retardation protein Fragile X Mental Retardation Protein - genetics Fragile X syndrome Fragile X Syndrome - genetics Fragile X Syndrome - pathology Humans Male Males Mandible Mandible - abnormalities Mandible - metabolism Mental retardation Mice Mice, Inbred C57BL Mice, Knockout Middle Aged Models, Anatomic Mutation NMR Nuclear magnetic resonance Rodents Skull Skull - abnormalities Skull - metabolism X-Ray Microtomography Young Adult
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