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Preferential Associated Anomalies in 818 Cases of Microtia in South America
(Wiley-liss, Div John Wiley & Sons Inc, 2013-05)
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a ...
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies
(2015-12-01)
Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural ...
Birth defects: Risk factors and consequences
(2013-01-01)
Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental ...
Maternal risks and predictor factors for the termination of pregnancy in fetuses with severe congenital anomaly: experience from a single reference center in brazil
(Wiley, 2016)
Objective: To assess the maternal complications in pregnant women with fetuses with several congenital anomaly as well as the predictor variables for the termination of pregnancy.Methods: We performed a retrospective cohort ...
Prenatal detection of congenital anomalies and related factors in Argentina
(Springer, 2020-07)
Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of ...
Preferential Associations Between Oral Clefts and Other Major Congenital Anomalies
(SAGE Publications, 2019)
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)