Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound

doi:10.12659/PJR.894188

Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound

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Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound

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title:	Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound
author:	Mistry Kewal A., Suthar Pokhraj P., Bhesania Siddharth R., Patel Ankitkumar
journal title:	Polish Journal of Radiology
volume:	80
date of publication :	2015
pages:	296-299
ISSN:	1733-134X
eISSN:	1899-0967
DOI:	10.12659/PJR.894188
notes:	Bibliogr. s. 299
language:	English
journal language:	English
abstract in English:	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. CASE REPORT: 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.
keywords in English:	congenital abnormalities, imaging, three-dimensional, prenatal diagnosis, ultrasonography
type:	journal article
subtype:	academic paper

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