IMR Press / CEOG / Volume 40 / Issue 1 / pii/1630388048717-532776652

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Ultrasound diagnosis of recurring Jeune’s syndrome: a case report
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1 Department of Obstetrics & Gynecology, Democritus, University, Alexandroupolis (Greece)
Clin. Exp. Obstet. Gynecol. 2013, 40(1), 162–164;
Published: 10 March 2013
Abstract

Jeune’s Syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia syndrome characterized by a small and narrow chest, short extremities, and often polydactyly associated with multiple organ manifestations. The severity of complications ranges from mild to lethal. This is a report of two cases of ATD diagnosed in successive pregnancies of a nonconsanguineous couple. The contribution of sonography in prenatal diagnosis of the syndrome is highlighted.
Keywords
Jeune’s Syndrome
Asphyxiating Thoracic Dystrophy
Ultrasound diagnosis of Jeune’s Syndrome
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