Literature DB >> 12001196

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

Karim D Kalache1, Katarina Lehmann, Rabih Chaoui, Dietmar E Kivelitz, Stefan Mundlos, Rainer Bollmann.   

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. Copyright 2002 John Wiley & Sons, Ltd.

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Year:  2002        PMID: 12001196     DOI: 10.1002/pd.327

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  Cloverleaf skull deformity and hydrocephalus.

Authors:  Guilherme Machado; Federico Di Rocco; Christian Sainte-Rose; Philippe Meyer; Daniel Marchac; Gaëlle Macquet-Nouvion; Eric Arnaud; Dominique Renier
Journal:  Childs Nerv Syst       Date:  2011-09-17       Impact factor: 1.475

2.  Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.

Authors:  Ai Peng Tan; Gema Priego
Journal:  Childs Nerv Syst       Date:  2019-01-04       Impact factor: 1.475

3.  A case of thanatophoric dysplasia type 2: a novel mutation.

Authors:  Selvi Gülaşı; Aytuğ Atıcı; Yalçın Çelik
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-03
  3 in total

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