[X fragile syndrome; how to make a precocious diagnostic].
Fragile X syndrome diagnosis is not so easy to make in the first years. Morphological anomalies may be subtle, with high forehead, long face and large ears with soft cartilage. Autistic behaviour is frequent, with hand flapping, lone playing, eye contact avoidance and no language. Early diagnosis of X fragile syndrome is needed, as it is a genetic disease, with a recurrence risk in the family. Early diagnosis is also useful for the care of these children, with psychological and educational special management.
Gérard-Blanluet
Marion
M
Génétique clinique, service de néonatalogie, centre hospitalier intercommunal, 40, avenue de Verdun, 94010 Créteil. marion.gerard@chicreteil.fr
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007361:Intelligence Tests; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis