How to Cite this Article: Corona-Rivera JR, Rea-Rosas A, Santana-Ramírez A, Acosta-León J, Hernández-Rocha J, Miguel-Jiménez K. 2010. Holoprosencephaly and Genitourinary Anomalies in Fetal Methotrexate Syndrome. Am J Med Genet Part A 152A:1741–1746.
Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome†
Article first published online: 7 JUN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 7, pages 1741–1746, July 2010
How to Cite
Corona-Rivera, J. R., Rea-Rosas, A., Santana-Ramírez, A., Acosta-León, J., Hernández-Rocha, J. and Miguel-Jiménez, K. (2010), Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome. Am. J. Med. Genet., 152A: 1741–1746. doi: 10.1002/ajmg.a.33496
- Issue published online: 25 JUN 2010
- Article first published online: 7 JUN 2010
- Manuscript Accepted: 10 APR 2010
- Manuscript Received: 9 DEC 2009
- aminopterin syndrome;
- penile curvature;
- vesicoureteral reflux;
- cleft palate;
Prenatal exposure to methotrexate (MTX) in the first trimester may lead to fetal death, and surviving children have increased risks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth retardation, and, in some cases, developmental delay, a pattern of defects recognized as fetal MTX syndrome (FMS). We report on a male infant who, in addition to severe FMS, showed previously undescribed central nervous system (CNS) and genitourinary anomalies that contributed to the further delineation. The propositus was born to a G2, 20-year-old mother with an irregular menstrual history. The unplanned pregnancy was complicated by oral MTX treatment (5 mg/day) for suspected systemic lupus erythematosus for 14 days at the 5th week post-conception, as dated by the first trimester sonogram. In addition to the typical features of the FMS, our propositus exhibited congenital penile curvature, vesicoureteral reflux, hydronephrosis, and severe CNS anomalies including semilobar holoprosencephaly (HPE). A single previous report of lobar-type HPE in an infant with FMS led us to confirm that the HPE observed in the propositus is a feature attributable to MTX teratogenicity, although the exact mechanisms of the HPE production need to be further elucidated. Also, this case serves to highlight the presence of genitourinary anomalies in patients with FMS, a fact that requires intentional searches in future patients in order to confirm this as being characteristic of the entity. © 2010 Wiley-Liss, Inc.