| Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? | |
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MedLine Citation:
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PMID: 10482872 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cyclophosphamide (CP) is an alkylating agent widely used in treating cancer and autoimmune disease. CP is classified as a pregnancy risk factor D drug and is teratogenic in animals, but population studies have not conclusively demonstrated teratogenicity in humans. Six isolated reports of prenatally exposed infants with various congenital anomalies exist, but to date no specific phenotype has been delineated. The purpose of this report is to document a new case of in utero CP exposure with multiple congenital anomalies and to establish an apparent CP embryopathy phenotype. The mother had systemic lupus erythematosus and cyclophosphamide exposure in the first trimester. She also took nifedipine, atenolol, clonidine, prednisone, aspirin, and potassium chloride throughout pregnancy. The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbits, proptosis, blepharophimosis, small, abnormal ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high-arched palate, micrognathia, preaxial upper limb and postaxial lower limb defects consisting of hypoplastic thumbs, and bilateral absence of the 4th and 5th toes. Chromosomes were apparently normal. The reported cases of in utero exposure to cyclosposphamide shared the following manifestations with our patient: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects including hypoplastic thumbs and oligodactyly. We conclude that (a) cyclophosphamide is a human teratogen, (b) a distinct phenotype exists, and (c) the safety of CP in pregnancy is in serious question. |
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Authors:
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G M Enns; E Roeder; R T Chan; Z Ali-Khan Catts; V A Cox; M Golabi |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 86 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 Sep |
Date Detail:
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Created Date: 1999-11-05 Completed Date: 1999-11-05 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 237-41 Citation Subset: IM |
Copyright Information:
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Copyright 1999 Wiley-Liss, Inc. |
Affiliation:
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Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, California. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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chemically induced*,
pathology Adult Animals Blepharophimosis / chemically induced Craniosynostoses / chemically induced Cyclophosphamide / adverse effects* Developmental Disabilities / chemically induced Ear, External / abnormalities Female Growth Disorders / chemically induced Humans Infant, Newborn Limb Deformities, Congenital / chemically induced Lupus Erythematosus, Systemic / complications, drug therapy Maternal-Fetal Exchange Phenotype Pregnancy Pregnancy Complications / drug therapy Teratogens / toxicity |
| Grant Support | |
ID/Acronym/Agency:
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CA 94143-0706/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Teratogens; 50-18-0/Cyclophosphamide |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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