Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives.
View Article and Find Full Text PDFFemoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described.
View Article and Find Full Text PDFSeveral calibration settings of diffusion barrier charcoal canister (DBCC) detectors for measuring radon concentration in air were studied. A set of functions and graphs were developed for relations between radon concentration in air and adsorbed activity in DBCC, when calibrated in small chambers. Both the integration time for 10% of DBCC of a batch, and the radon adsorption coefficient for the activated charcoal used in these detectors, were determined.
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