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Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
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.
thanatophoric dysplasia type 2, corpus callosum abnormalities, ultrasonography, magnetic resonance imaging
0197-3851
404-407
Kalache, Karim D.
fc3d1666-551d-4dce-845c-710c5908d726
Lehmann, Katarina
6d084819-5fc2-4e2d-a9a2-e08db02b80ef
Chaoui, Rabin
72c37424-24d5-404d-8f67-bf93a77ef25c
Kivelitz, Dietmar E.
b8ce487a-662f-4439-b2e3-dcea8f209018
Mundlos, Stefan
ee6332cb-8570-432d-a73d-f750470e9e06
Bollmann, Rainer
394e531a-fd07-48d6-a994-448b02b67a96
Kalache, Karim D.
fc3d1666-551d-4dce-845c-710c5908d726
Lehmann, Katarina
6d084819-5fc2-4e2d-a9a2-e08db02b80ef
Chaoui, Rabin
72c37424-24d5-404d-8f67-bf93a77ef25c
Kivelitz, Dietmar E.
b8ce487a-662f-4439-b2e3-dcea8f209018
Mundlos, Stefan
ee6332cb-8570-432d-a73d-f750470e9e06
Bollmann, Rainer
394e531a-fd07-48d6-a994-448b02b67a96

Kalache, Karim D., Lehmann, Katarina, Chaoui, Rabin, Kivelitz, Dietmar E., Mundlos, Stefan and Bollmann, Rainer (2002) Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis, 22 (5), 404-407. (doi:10.1002/pd.327).

Record type: Article

Abstract

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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Published date: 2002
Additional Information: Short Communication
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Keywords: thanatophoric dysplasia type 2, corpus callosum abnormalities, ultrasonography, magnetic resonance imaging

Identifiers

Local EPrints ID: 25696
URI: http://eprints.soton.ac.uk/id/eprint/25696
DOI: doi:10.1002/pd.327
ISSN: 0197-3851
PURE UUID: b78f1131-5566-4d14-b55b-1d173b8dd859

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Date deposited: 21 Apr 2006
Last modified: 15 Mar 2024 07:04

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Contributors

Author: Karim D. Kalache
Author: Katarina Lehmann
Author: Rabin Chaoui
Author: Dietmar E. Kivelitz
Author: Stefan Mundlos
Author: Rainer Bollmann

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