Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging.
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.
Picone
O
O
Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, Clamart, Assistance Publique des Hopitaux de Paris (AP-HP), Université Paris XI, Paris, France. olivier.picone@abc.ap-hop-paris.fr
Hirt
R
R
Suarez
B
B
Coulomb
A
A
Tachdjian
G
G
Frydman
R
R
Senat
M-V
MV
D000028:Abortion, Induced; D061085:Agenesis of Corpus Callosum; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D005260:Female; D016142:Holoprosencephaly / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D016216:Ultrasonography, Prenatal