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Pseudoaminopterin syndrome.
Am J Med Genet A
September 2012
Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.
Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome.
View Article and Find Full Text PDFCongenitally corrected transposition of the great arteries in a patient with cor triatriatum: a rare combination.
Pediatr Cardiol
April 2011
Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, India.
Congenitally corrected transposition of the great arteries is a rare anomaly that is thought to arise from a defect in looping of the primitive cardiac tube. Cor triatriatum is another rare congenital cardiac anomaly due to faulty incorporation of the common pulmonary vein into the left atrium. We present a rare case comprising both disorders in one patient.
View Article and Find Full Text PDFCongenital cardiac defects: a possible association of aminopterin syndrome and in utero methotrexate exposure?
Pediatr Cardiol
April 2011
Congenital Heart Institute, Arnold Palmer Hospital for Children, 50 W. Sturtevant St., Orlando, FL 32806, USA.
Folate antagonist are chemotherapeutic agents used in many neoplastic, autoimmune, and inflammatory disorders. The first suggestions that folic acid antagonists were teratogenic in humans were based on reports of failed terminations in mothers given aminopterin in the first trimester. Newborns who survived after aminopterin exposure were noted for years to have defects of the neural tube, skull, or limbs.
View Article and Find Full Text PDFPseudoaminopterin syndrome: clinical report with new characteristics.
Am J Med Genet A
December 2009
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Fetuses exposed to aminopterin during the 8th-9th week of development may show aminopterin embryophathy (AE). Surviving children have a specific phenotype that includes unusual face, skull, and skeletal abnormalities. Fraser et al.
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