The paternal uniparental disomy 14 is a rare malformation syndrome whose postnatal pathognomonic sign is the deformation of the rib as coat hanger. In prenatal, ultrasonographic signs are major recurrent polyhydramnios, a narrow thorax and deformed long bones short and sometimes other anomalies including ends. The authors report one rare case of prenatal paternal uniparental disomy 14 with the deformation of the rib as coat hanger. Prenatally, the narrow deformed thorax can be searched by ultrasound three-dimensional (3D) and/or helical CT and thus represent an aid to prenatal diagnosis.
Keywords: 3D ultrasound; Disomie uniparentale paternelle 14; Déformation des côtes en cintre; Hydramnios; Paternal uniparental disomy 14; Polyhydramnios; Scanner hélicoïdal; Spiral CT; The deformation of the rib as coat hanger; UPD 14; Échographie 3D.
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