TERATOGENIC EFFECTS IN A CASE OF MATERNAL TREATMENT FOR ACUTE MYELOCYTIC - LEUKEMIA NEONATAL AND INFANTILE COURSE

Experience with the use of cytotoxic drugs in the first trimester of p regnancy is limited. We report on the clinical phenotype and infantile development of a girl born to a 36-year-old mother. Before recognitio n of pregnancy, the latter had been treated for acute myelocytic leuka emia receiving cytarabine, daunorubicin and doxorubicin at conception and cytarabine and thioguanine at about 35-37 days post conception. At delivery, there were severe brachycephaly, hypoplasia of the anterior cranial base and the mid-face as well as synostoses of both coronal a nd metopic sutures. Further findings included bilateral four-finger ha nds with hypoplastic thumbs and absent radii. This phenotype is remini scent of the Baller-Gerold syndrome. The child, at present 15 months o ld, has had to undergo two operations for fronto-orbital advancement b ecause of insufficient growth of the mid-face, nasal airway hypoplasia and increased intracranial pressure. Motor milestones are slightly re tarded - neurodevelopment is otherwise normal. These findings are disc ussed in the context of the few previous reports and are particularly important for future genetic counselling.