First clinical manifestations of a case of Fragile X Syndrome in the community

Max Ramiro Ochoa Ortega; Berta de las Mercedes Abreu Carrete; Maribel Camejo Pérez; Elena María González Ávila

2016, Number 5

<< Back Next >>

AMC 2016; 20 (5)

First clinical manifestations of a case of Fragile X Syndrome in the community

Ochoa OM, Abreu CBM, Camejo PM, González ÁEM

Full text

How to cite this article

Language: Spanish
References: 0
Page: 531-535
PDF size: 317.80 Kb.

ABSTRACT

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 w ho 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.