Abstract

OCHOA ORTEGA, Max Ramiro; ABREU CARRETE, Berta de las Mercedes; CAMEJO PEREZ, Maribel  and  GONZALEZ AVILA, Elena María. First clinical manifestations of a case of fragile X syndrome in the community. AMC [online]. 2016, vol.20, n.5, pp.531-535. ISSN 1025-0255.

Background: fragile X Syndrome is the most common mental retardations disorders linked to X chromosome. Objective: to show the first clinical manifestations of a case of Fragile X Syndrome case that did not began with psychomotor development retardation. Clinical case: a patient who is transferred to genetic consult for presenting macrocranium, dysplastic ears in form of cup. Aged one year and six month old, he had psychomotor development retardation. Physical examinations and complementary test confirmed Fragile X Syndrome diagnosis. The patient was treated in early stimulation consult which improved the psychomotor development retardation. Conclusions: the presence of macrocephaly and later psychomotor development retardation helped to make the appropriate diagnosis of that disorder. Early stimulation permitted advances in psychomotor development in this patient.

Keywords : FRAGILE X SYNDROME; PSYCHOMOTOR DISORDERS; THERAPEUTICS; INFANT; CASE REPORTS.

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