Fragile X (Martin Bell) syndrome.
Fragile X syndrome is a neurodevelopmental disorder that results from a single gene mutation on the X chromosome. It is the most common genetic cause of learning disability, though many patients remain unrecognized. Fragile X syndrome is characterized phenotypically mainly by a long coarse face, prominent ears and macro-orchidism. Affected individuals are also mentally challenged and may have mitral valve prolapse, and seizures. A case of Fragile X syndrome is reported, with oral findings and potential management difficulties in oral care.
Scully
Crispian
C
International Centres for Excellence in Denstistry and Eastman Dental Institute for Oral Health Care Sciences, University College London.
D000328:Adult; D004431:Ear, External / Q000002:abnormalities; D005145:Face; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005891:Gingivitis / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007859:Learning Disabilities / Q000175:diagnosis; D008046:Lip / Q000002:abnormalities; D008297:Male; D008945:Mitral Valve Prolapse / Q000473:pathology; D010641:Phenotype; D013737:Testis / Q000002:abnormalities; D019217:Tooth Attrition / Q000473:pathology