Document Detail

Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
MedLine Citation:
PMID:  10482872     Owner:  NLM     Status:  MEDLINE    
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.
G M Enns; E Roeder; R T Chan; Z Ali-Khan Catts; V A Cox; M Golabi
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  86     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Sep 
Date Detail:
Created Date:  1999-11-05     Completed Date:  1999-11-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  237-41     Citation Subset:  IM    
Copyright Information:
Copyright 1999 Wiley-Liss, Inc.
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, California.
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MeSH Terms
Abnormalities, Multiple / chemically induced*,  pathology
Blepharophimosis / chemically induced
Craniosynostoses / chemically induced
Cyclophosphamide / adverse effects*
Developmental Disabilities / chemically induced
Ear, External / abnormalities
Growth Disorders / chemically induced
Infant, Newborn
Limb Deformities, Congenital / chemically induced
Lupus Erythematosus, Systemic / complications,  drug therapy
Maternal-Fetal Exchange
Pregnancy Complications / drug therapy
Teratogens / toxicity
Grant Support
CA 94143-0706/CA/NCI NIH HHS
Reg. No./Substance:
0/Teratogens; 50-18-0/Cyclophosphamide

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