Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation.

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.