Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.
A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed.
Kalache
Karim D
KD
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Medical Faculty of the Humboldt-University, Berlin, Germany. kkalache@med.wayne.edu
Lehmann
Katarina
K
Chaoui
Rabih
R
Kivelitz
Dietmar E
DE
Mundlos
Stefan
S
Bollmann
Rainer
R
D000025:Abortion, Eugenic; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001927:Brain Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D011247:Pregnancy; D013796:Thanatophoric Dysplasia / Q000150:complications / Q000473:pathology*; D016216:Ultrasonography, Prenatal