title: Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound.
abstract: BACKGROUND
  Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000-130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.
  
  
  METHODS
  A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia).
  
  
  CONCLUSIONS
  Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity.
authors.affiliation: Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.
authors.forename: Kewal A
authors.initials: KA
authors.lastname: Mistry
authors.affiliation: Department of Radiology, Baroda Medical College, Vadodara, India.
authors.forename: Pokhraj P
authors.initials: PP
authors.lastname: Suthar
authors.affiliation: Department of Biostatistics, Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A.
authors.forename: Siddharth R
authors.initials: SR
authors.lastname: Bhesania
authors.affiliation: Department of Physiology, Baroda Medical College, Vadodara, India.
authors.forename: Ankitkumar
authors.initials: A
authors.lastname: Patel
keywords: Congenital Abnormalities; Imaging, Three-Dimensional; Prenatal Diagnosis; Ultrasonography