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Semilobar holoprosencephaly in a 46,XY female fetus
I Witters1, P Moerman, M Muenke
1Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
Prenatal Diagnosis
|December 18, 2001
Abstract:
We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads.