Kalache, Karim D., Lehmann, Katarina, Chaoui, Rabin, Kivelitz, Dietmar E., Mundlos, Stefan and Bollmann, Rainer
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
Prenatal Diagnosis, 22, (5), . (doi:10.1002/pd.327).
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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.
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