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A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype

✍ Scribed by Mohammed Zain Seidahmed; Meeralebbae M. Shaheed; Omar B. Abdulbasit; Hessa Al Dohami; Mirghani Babiker; Mohammed A. Abdullah; Abdullah M. Abomelha

Book ID
101705639
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
305 KB
Volume
76
Category
Article
ISSN
1542-0752

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✦ Synopsis

Abstract

BACKGROUND

Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype.

CASE

A 29‐year‐old woman decided to terminate her unwanted pregnancy because of ill health, as she had conceived soon after her last delivery by cesarian section. At 6 weeks of gestation, she took 2.5 mg of MTX 3 times a day for 7 days. The pregnancy termination failed, and the pregnancy was carried to term. A female infant was delivered who was growth retarded and had characteristic features of MTX embryopathy in addition to holoprosencephaly and other brain malformations, facial hypertrichosis, and long eyelashesβ€”features that have not hitherto been described.

CONCLUSIONS

We report the first case of holoprosencephaly in association with MTX exposure during the first 6 weeks of gestation. Physicians and the public should be aware of the effects of MTX on the fetus during pregnancy. Birth Defects Research (Part A), 2006. Β© 2006 Wiley‐Liss, Inc.

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