When should evoke prenatal paternal uniparental disomy 14? [Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14 ?]

摘要

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.