IMR Press / CEOG / Volume 30 / Issue 1 / pii/2003015

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). 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.

Case Report

Severe hypoplasia of the right femur, ipsilateral agenesia of the fibula and twisted right foot in a 24-week-old fetus with proximal femoral focal deficiency (PFFD)

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1 2nd Institute Obstetrics and Gynaecology, University “La Sapienza”, Rome (Italy)
2 Department of Psychiatric Sciences and Psychological Medicine, University “La Sapienza”, Rome (Italy)
Clin. Exp. Obstet. Gynecol. 2003, 30(1), 65–66;
Published: 10 March 2003
Abstract

A case of a 24-week-old fetus of non consanguineous parents with an ultrasonographic diagnosis of a short right femur, ipsilate­ral agenesia of the fibula and a twisted right foot is described. Cordocentesis revealed a normal 46XY karyotype. The parents were informed on treatment options and after psychological coun­selling they decided to undergo an abortion. Post mortem examination confirmed the diagnosis of a severe right limb malformation.

Keywords
Unilateral femoral hypoplasia
Agenesia of fibula
Twisted foot
Proximal femoral focal deficiency (PFFD)
Prenatal diagnosis
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