Diagnóstico prenatal en el segundo trimestre de displasia torácica asfixiante / Prenatal diagnosis in the second trimester of asphyxiating thoracic dysplasia

ABSTRACT

A case of prenatal diagnosis of Jeune’s syndrome is described. Because the incidence of this syndrome is low, diagnosis in the 21st week of pregnancy is exceptional. Jeune’s syndrome, or asphyxiating thoracic dysplasia, is a skeletal dysplasia with autosomal recessive inheritance. Prenatal diagnosis can be established by ultrasonographic findings of a small thorax, short ribs, pelvic abnormalities, rhizomelic brachymelia, and renal and liver anomalies, among others. In the present case, the prenatal diagnosis was confirmed at necropsy (AU)