In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation.
View Article and Find Full Text PDFCapsule networks (see Hinton et al., 2018) aim to encode knowledge of and reason about the relationship between an object and its parts. In this letter, we specify a generative model for such data and derive a variational algorithm for inferring the transformation of each model object in a scene and the assignments of observed parts to the objects.
View Article and Find Full Text PDFTwo cases of fetal hand abnormalities are presented in this report. The first one is a case of unilateral fetal syndactyly detected in the first trimester routine scan, resulting in the early diagnosis of a severe genetic condition by invasive testing and early termination of pregnancy. By doing so, we ensured that the woman was managed in the most appropriate way.
View Article and Find Full Text PDFCase Rep Obstet Gynecol
August 2020
Extramedullary relapse of leukemia is encountered more often than in the past. The reason is that leukemia survival rates increase with improved treatment schemes. We present a rare case of involvement of the cervix of the uterus in an adult B Acute Lymphocytic Leukemia (B-ALL) survivor.
View Article and Find Full Text PDFThe case is about a young female who delivered twins by caesarean section (CS). On the 4th postoperative day, she presented with ascites which was resistant to empirical antibiotic and diuretic treatment. The woman was affected by Turner syndrome (TS); she had a medical background of chronic use of hormonal medication since puberty and conceived through ART- (assisted reproduction techniques-) IVF-oocyte donation.
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