65 research outputs found
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies
Comparison of the diagnostic accuracy of International Ovarian Tumor Analysis simple rules and the risk of malignancy index to discriminate between benign and malignant adnexal masses
Accuracy of fetal heart-rate variability interpretation by obstetricians using the criteria of the National Institute of Child Health and Human Development compared with computer-aided interpretation
Splenic Circumference at Midpregnancy as a Predictor of Hemoglobin Bart’s Disease among Fetuses at Risk
Fetal hemoglobin Bart’s hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment
Association between isolated abnormal levels of maternal serum unconjugated estriol in the second trimester and adverse pregnancy outcomes
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