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

Gabriele Tonni, Marco Panteghini, MariaPaola Bonasoni, Pierpaolo Pattacini, Alessandro Ventura

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)123-132
Number of pages10
JournalFetal and Pediatric Pathology
Volume32
Issue number2
DOIs
Publication statusPublished - Apr 2012

Keywords

  • Asphyxiating thoracic dystrophy (ATD)
  • DNA analysis
  • Jeune syndrome
  • MR imaging
  • Prenatal ultrasound

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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