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Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging
Author(s) -
Picone O.,
Hirt R.,
Suarez B.,
Coulomb A.,
Tachdjian G.,
Frydman R.,
Senat M.V.
Publication year - 2006
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.2851
Subject(s) - holoprosencephaly , corpus callosum , medicine , magnetic resonance imaging , abnormality , corpus callosum agenesis , prenatal diagnosis , neuroimaging , anatomy , pathology , fetus , radiology , pregnancy , biology , genetics , psychiatry
A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.