How to Cite this Article: Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. 2011. Pseudoaminopterin syndrome. Am J Med Genet Part A. 158A:2233–2238.
Article first published online: 18 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2233–2238, September 2012
How to Cite
Kraoua, L., Capri, Y., Perrin, L., Benmansour, A. and Verloes, A. (2012), Pseudoaminopterin syndrome. Am. J. Med. Genet., 158A: 2233–2238. doi: 10.1002/ajmg.a.35212
- Issue published online: 24 AUG 2012
- Article first published online: 18 JUL 2012
- Manuscript Accepted: 23 NOV 2011
- Manuscript Received: 23 AUG 2011
- aminopterin embryopathy;
- pseudoaminopterin syndrome
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.