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Journal of Medical Genetics 1985;22:147-149; doi:10.1136/jmg.22.2.147
Copyright © 1985 by the BMJ Publishing Group Ltd.

A case of suspected teratogenic holoprosencephaly.

M Stabile, A Bianco, S Iannuzzi, M C Buonocore, V Ventruto

A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.


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