Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?
BACKGROUND
Immunosuppressants are teratogenic in mice, rats, and rabbits and cause prenatal growth restriction in humans. As yet, there has been no proven teratogenicity in humans.


METHODS
We present a chromosomally normal fetus with severe acrofacial dysostosis and orofacial clefts. These were bilateral transverse and oblique clefts and defects of the midface. In addition, there were preaxial limb anomalies with digitalization of thumbs and internal cardiovascular, gastrointestinal, and urogenital malformations. The mother had been treated with high doses of the immunosuppressant mycophenolate mofetil in early pregnancy for systemic lupus erythematosus.


CONCLUSIONS
Mycophenolate mofetil may have contributed to or even caused acrofacial dysostosis phenotype and extensive clefting.
Schoner
Katharina
K
Institute of Pathology, Philipps-University Marburg, Germany.
Steinhard
Johannes
J
Figiel
Jens
J
Rehder
Helga
H
D000014:Abnormalities, Drug-Induced / Q000209:etiology / Q000473:pathology*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000139:chemically induced* / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000139:chemically induced* / Q000473:pathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects*; D008180:Lupus Erythematosus, Systemic / Q000188:drug therapy; D009173:Mycophenolic Acid / Q000009:adverse effects / Q000031:analogs & derivatives*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D011297:Prenatal Exposure Delayed Effects / Q000139:chemically induced* / Q000473:pathology
D007166:Immunosuppressive Agents; D009173:Mycophenolic Acid