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.
Socolov
R
R
"Gr.T. Popa" University of Medicine and Pharmacy Iaşi, School of Medicine, Department of Obstetrics and Gynecology.
Rusu
Cristina
C
Socolov
Demetra
D
Iliev
G
G
Buţureanu
St
S
Covali
Roxana
R
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