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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 24748.0, MPI für molekulare Genetik / Research Group Development and Disease
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
Authors:Kalache, Karim D.; Lehmann, Katarina; Chaoui, Rabih; Kivelitz, Dietmar E.; Mundlos, Stefan; Bollmann, Rainer
Language:English
Date of Publication (YYYY-MM-DD):2002-04-12
Title of Journal:Prenatal Diagnosis
Volume:22
Issue / Number:5
Start Page:404
End Page:407
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:thanatophoric dysplasia type 2; corpus callosum abnormalities; ultrasonography; magnetic resonance imaging
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Medical Faculty of the Humboldt-University, Berlin
Department of Medical Genetics, Medical Faculty of the Humboldt-University, Berlin
Department of Radiology, Campus Charité Mitte, University Hospital, Medical Faculty of the Humboldt-University, Berlin
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