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

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dc.contributor.author Mistry, Kewal A. pl
dc.contributor.author Suthar, Pokhraj P. pl
dc.contributor.author Bhesania, Siddharth R. pl
dc.contributor.author Patel, Ankitkumar pl
dc.date.accessioned 2017-07-12T08:10:01Z
dc.date.available 2017-07-12T08:10:01Z
dc.date.issued 2015 pl
dc.identifier.issn 1733-134X pl
dc.identifier.uri http://ruj.uj.edu.pl/xmlui/handle/item/42668
dc.language eng pl
dc.rights Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska *
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode *
dc.title Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound pl
dc.type JournalArticle pl
dc.description.physical 296-299 pl
dc.description.additional Bibliogr. s. 299 pl
dc.abstract.en 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. pl
dc.subject.en congenital abnormalities pl
dc.subject.en imaging pl
dc.subject.en three-dimensional pl
dc.subject.en prenatal diagnosis pl
dc.subject.en ultrasonography pl
dc.description.volume 80 pl
dc.identifier.doi 10.12659/PJR.894188 pl
dc.identifier.eissn 1899-0967 pl
dc.title.journal Polish Journal of Radiology pl
dc.language.container eng pl
dc.subtype Article pl
dc.rights.original CC-BY-NC-ND; otwarte czasopismo; ostateczna wersja wydawcy; w momencie opublikowania; 0; pl


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Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska Except where otherwise noted, this item's license is described as Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska