The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report

The authors present the case of a foetus with Jeune syndrome (asphyxiating thoracic dystrophy) in a woman with a previous deceased child with the same disease, and also with a normal sibling. The diagnosis was mentioned at 26 week of pregnancy, based on ultrasonographic findings: short proximal bones (under 3 percentiles), and a diminished thoracic circumference, (although greater than 10 percentiles for the gestational age). There was an interdisciplinary agreement for the therapeutic termination of the pregnancy, and the post-expulsion assessment confirmed the diagnosis. This case demonstrates a higher incidence of Jeune dystrophy than the one expected for an autosomal recessive disease, with 2 out of 3 children affected, instead of 25%. It also shows that the earliest change is the one regarding the shortened long bones, often difficult to notice before 20 weeks, fact which favors a detailed genetic sonogram done after this limit.