Volúmen 34 No . 3 (2016)

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Browsing Volúmen 34 No . 3 (2016) by Subject "Hipoplasia Del Quinto Dedo"

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    Sindrome de Coffin-Siris
    (Universidad de Cuenca. Facultad de Ciencias Médicas, 2016-12) Tacuri Ordóñez, Mayra Pricila; Jaramillo Oyervide, Julio Alfredo
    This study describes a case of a 6-years and 9-months- old child, who was attended at the Child Development Center of the University of Cuenca (CEDIUC), with the characteristics of the Coffin-Syndrome. The karyotype 46xy, inv9 (p12q13), determined by clinical features the diagnosis of Coffin-Syndrome. Child product of the fourth pregnancy, prenatal history: threatened abortion; natal history: he born at 38.4 weeks of gestation with a diagnosis of respiratory distress, for this reason he was hospitalized for 15 days in the Intensive Care unit of the Humanitarian clinic; post-natal history: he presented global developmental delay, in addition to other affections such as congenital heart disease and ventricular septal defect. He receives treatment in several centers. The Coffin-Siris syndrome is a rare genetic disease, with a low incidence and for this reason it is not studied enough, it is characterized by mental retardation, delayed psychomotor development, coarse facies, thinning hair and hypoplasia of the fifth finger nail. A comprehensive bibliographic review was performed, and Coffin-Siris syndrome is a rare genetic disease with about 10 cases published in Latin America; the etiology is still controversial, its chromosomal location has not been defined, but some authors have raised a possible autosomal recessive inheritance