Díaz RYL, Vargas FMÁ

Language: Spanish
References: 8
Page: 1-4
PDF size: 390.03 Kb.

ABSTRACT

Costello syndrome is a rare, genetically based disease; about 300 cases are described. It is suggested that the inheritance pattern is autosomal dominant, although many of the cases are sporadic, suggesting a dominant new gene mutation; it is characterized by delayed psychomotor, pondoestaural and characteristic facies, as well as alterations of organ systems. The case of a 1-year-old female transitional, attended at the Pediatric Hospital of Centro Habana, is presented with clinical manifestations compatible with the diagnosis of Costello Syndrome. Study and clinical description of the patient was carried out, detecting as main distinctive features: delay in psychomotor growth and development, congenital heart disease and grotesque facies associated with dysmorphisms. Early diagnosis of this syndrome makes it possible to stimulation and intervention early, actively search for tumor lesions, as well as offer genetic counseling to parents.

REFERENCES

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