title: The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report.
abstract: 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.
authors.affiliation: "Gr.T. Popa" University of Medicine and Pharmacy Iaşi, School of Medicine, Department of Obstetrics and Gynecology.
authors.forename: R
authors.initials: R
authors.lastname: Socolov
authors.forename: Cristina
authors.initials: C
authors.lastname: Rusu
authors.forename: Demetra
authors.initials: D
authors.lastname: Socolov
authors.forename: G
authors.initials: G
authors.lastname: Iliev
authors.forename: St
authors.initials: S
authors.lastname: Buţureanu
authors.forename: Roxana
authors.initials: R
authors.lastname: Covali
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000032:Abortion, Therapeutic; D000328:Adult; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D035781:Siblings; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal