Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome

Indian Journal of Pediatrics
Bibhuti B DasPhilip F Giampietro

Abstract

We describe prenatal sonographic findings in a 34-week fetus with Jeune syndrome or asphyxiating thoracic dystrophy (ATD). The long bones measured were less than third percentile; the thoracic circumference (TC) measured 216 mm (< 2.5th percentile); the abdominal circumference (AC) measured 303.5 mm (50th-75th percentiles) and the rib cage perimeter (RCP) measured was 98 mm. The TC/AC was 0.70 (normal, 0.85) and the RCP/TC was 0.45 (normal, 0.68). Following birth diagnosis of Jeune syndrome was made based on radiographic analysis, which was subsequently confirmed by clinical and postmortem examination. This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax.

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Citations

Apr 6, 2011·American Journal of Medical Genetics. Part a·Kim M Keppler-NoreuilMarcia C Willing
Nov 23, 2011·Journal of Clinical Ultrasound : JCU·Rose RahmaniH Melanie Bedford
Aug 3, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R RuanoY Ville

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