title: Semilobar holoprosencephaly in a 46,XY female fetus.
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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: F A
authors.initials: FA
authors.lastname: Van Assche
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: D
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis; D005260:Female; D005865:Gestational Age; D016142:Holoprosencephaly / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal