title: Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation.
abstract: Asphyxiating thoracic dystrophy (ATD) also known as Jeune syndrome is a rare autosomal recessive multisystem disorder with an incidence estimated in 1:100.000-130.000 live births. Associated findings may include hepatic fibrosis and renal cysts. A prenatal ultrasound and MRI diagnosis performed in the early second-trimester of pregnancy is reported together with DNA analysis. Post-mortem diagnostic investigations such as radiograph and three-dimensional CT scan and histology have been useful in the final diagnosis of this rare skeletal dysplasia.
authors.affiliation: Department of Obstetrics and Gyncology, AUSL Reggio Emilia, Guastalla, Italy. Tonni.Gabriele@ausl.re.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Marco
authors.initials: M
authors.lastname: Panteghini
authors.forename: Mariapaola
authors.initials: M
authors.lastname: Bonasoni
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
mesh_terms: D000328:Adult; D001344:Autopsy; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal