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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Pseudoaminopterin syndrome
American Journal of Medical Genetics, Part A, Volume 158 A, No. 9, Year 2012
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Description
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. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. © 2012 Wiley Periodicals, Inc.
Authors & Co-Authors
Kraoua, Lilia
France, Paris
Hôpital Robert-debré Ap-hp
Capri, Yline
France, Paris
Hôpital Robert-debré Ap-hp
Perrin, Laurence
France, Paris
Hôpital Robert-debré Ap-hp
Benmansour, Abdelmadjid
Algeria, Oran
Pediatrician
Verloès, Alain
France, Paris
Hôpital Robert-debré Ap-hp
Statistics
Citations: 5
Authors: 5
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.a.35212
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health